nsv1394600
- Organism: Homo sapiens
- Study:nstd122 (Duyzend et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:184,608
- 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: 2480 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 2443 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 921 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1394600 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 10,629,389 | 10,813,996 |
| nsv1394600 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,883,068 |
| nsv1394600 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 9,720,332 | 9,904,939 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv8109413 | copy number loss | SNP array | Probe signal intensity |
| nssv8109419 | copy number loss | SNP array | Probe signal intensity |
| nssv8109421 | copy number loss | SNP array | Probe signal intensity |
| nssv8109423 | copy number loss | SNP array | Probe signal intensity |
| nssv8109448 | copy number loss | SNP array | Probe signal intensity |
| nssv8602112 | copy number gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv8109413 | Remapped | Perfect | NC_000021.9:g.(?_1 0629389)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,389 | 10,813,996 |
| nssv8109419 | Remapped | Perfect | NC_000021.9:g.(?_1 0629389)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,389 | 10,813,996 |
| nssv8109421 | Remapped | Perfect | NC_000021.9:g.(?_1 0629389)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,389 | 10,813,996 |
| nssv8109423 | Remapped | Perfect | NC_000021.9:g.(?_1 0629389)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,389 | 10,813,996 |
| nssv8109448 | Remapped | Perfect | NC_000021.9:g.(?_1 0629389)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,389 | 10,813,996 |
| nssv8602112 | Remapped | Perfect | NC_000021.9:g.(?_1 0629389)_(10813996 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,389 | 10,813,996 |
| nssv8109413 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10883068 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,883,068 |
| nssv8109419 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10883068 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,883,068 |
| nssv8109421 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10883068 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,883,068 |
| nssv8109423 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10883068 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,883,068 |
| nssv8109448 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10883068 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,883,068 |
| nssv8602112 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10883068 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,883,068 |
| nssv8109413 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9904939_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,904,939 | ||
| nssv8109419 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9904939_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,904,939 | ||
| nssv8109421 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9904939_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,904,939 | ||
| nssv8109423 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9904939_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,904,939 | ||
| nssv8109448 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9904939_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,904,939 | ||
| nssv8602112 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9904939_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,904,939 |