nsv1392472
- Organism: Homo sapiens
- Study:nstd122 (Duyzend et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:29
- Validation:Not tested
- Clinical Assertions: No
- Region Size:164,386
- Publication(s):Duyzend et al. 2015
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2379 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 2340 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 877 SVs from 27 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv1392472 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nsv1392472 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nsv1392472 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv8109391 | copy number loss | SNP array | Probe signal intensity |
nssv8109392 | copy number loss | SNP array | Probe signal intensity |
nssv8109405 | copy number loss | SNP array | Probe signal intensity |
nssv8109408 | copy number loss | SNP array | Probe signal intensity |
nssv8109415 | copy number loss | SNP array | Probe signal intensity |
nssv8109426 | copy number loss | SNP array | Probe signal intensity |
nssv8109428 | copy number loss | SNP array | Probe signal intensity |
nssv8109432 | copy number loss | SNP array | Probe signal intensity |
nssv8109450 | copy number loss | SNP array | Probe signal intensity |
nssv8109458 | copy number loss | SNP array | Probe signal intensity |
nssv8109459 | copy number loss | SNP array | Probe signal intensity |
nssv8109463 | copy number loss | SNP array | Probe signal intensity |
nssv8109472 | copy number loss | SNP array | Probe signal intensity |
nssv8109475 | copy number loss | SNP array | Probe signal intensity |
nssv8109476 | copy number gain | SNP array | Probe signal intensity |
nssv8599573 | copy number gain | SNP array | Probe signal intensity |
nssv8600728 | copy number loss | SNP array | Probe signal intensity |
nssv8600977 | copy number loss | SNP array | Probe signal intensity |
nssv8602043 | copy number gain | SNP array | Probe signal intensity |
nssv8602450 | copy number loss | SNP array | Probe signal intensity |
nssv8603679 | copy number gain | SNP array | Probe signal intensity |
nssv8605129 | copy number loss | SNP array | Probe signal intensity |
nssv8605368 | copy number gain | SNP array | Probe signal intensity |
nssv8605733 | copy number gain | SNP array | Probe signal intensity |
nssv8609723 | copy number gain | SNP array | Probe signal intensity |
nssv8613122 | copy number gain | SNP array | Probe signal intensity |
nssv8615368 | copy number gain | SNP array | Probe signal intensity |
nssv8615489 | copy number gain | SNP array | Probe signal intensity |
nssv8616907 | copy number loss | SNP array | Probe signal intensity |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv8109391 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8109392 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8109405 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8109408 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8109415 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8109426 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8109428 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8109432 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8109450 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8109458 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8109459 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8109463 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8109472 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8109475 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8109476 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8599573 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8600728 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8600977 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8602043 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8602450 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8603679 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8605129 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8605368 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8605733 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8609723 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8613122 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8615368 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8615489 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8616907 | Remapped | Perfect | NC_000021.9:g.(?_1 0649611)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,649,611 | 10,813,996 |
nssv8109391 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8109392 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8109405 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8109408 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8109415 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8109426 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8109428 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8109432 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8109450 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8109458 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8109459 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8109463 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8109472 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8109475 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8109476 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8599573 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8600728 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8600977 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8602043 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8602450 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8603679 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8605129 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8605368 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8605733 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8609723 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8613122 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8615368 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8615489 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8616907 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10862846 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,862,846 |
nssv8109391 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8109392 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8109405 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8109408 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8109415 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8109426 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8109428 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8109432 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8109450 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8109458 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8109459 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8109463 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8109472 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8109475 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8109476 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8599573 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8600728 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8600977 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8602043 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8602450 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8603679 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8605129 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8605368 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8605733 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8609723 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8613122 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8615368 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8615489 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 | ||
nssv8616907 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9884717_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,884,717 |