nsv1395345
- Organism: Homo sapiens
- Study:nstd122 (Duyzend et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:15
- Validation:Not tested
- Clinical Assertions: No
- Region Size:186,310
- 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: 2483 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 2446 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 923 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1395345 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 10,627,687 | 10,813,996 |
| nsv1395345 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,884,770 |
| nsv1395345 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 9,720,332 | 9,906,641 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv8109397 | copy number loss | SNP array | Probe signal intensity |
| nssv8109406 | copy number loss | SNP array | Probe signal intensity |
| nssv8109441 | copy number loss | SNP array | Probe signal intensity |
| nssv8109444 | copy number loss | SNP array | Probe signal intensity |
| nssv8109461 | copy number loss | SNP array | Probe signal intensity |
| nssv8109462 | copy number loss | SNP array | Probe signal intensity |
| nssv8109467 | copy number loss | SNP array | Probe signal intensity |
| nssv8109468 | copy number loss | SNP array | Probe signal intensity |
| nssv8109473 | copy number loss | SNP array | Probe signal intensity |
| nssv8599049 | copy number loss | SNP array | Probe signal intensity |
| nssv8600325 | copy number gain | SNP array | Probe signal intensity |
| nssv8601133 | copy number loss | SNP array | Probe signal intensity |
| nssv8605326 | copy number gain | SNP array | Probe signal intensity |
| nssv8615302 | copy number loss | SNP array | Probe signal intensity |
| nssv8615563 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv8109397 | Remapped | Perfect | NC_000021.9:g.(?_1 0627687)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,627,687 | 10,813,996 |
| nssv8109406 | Remapped | Perfect | NC_000021.9:g.(?_1 0627687)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,627,687 | 10,813,996 |
| nssv8109441 | Remapped | Perfect | NC_000021.9:g.(?_1 0627687)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,627,687 | 10,813,996 |
| nssv8109444 | Remapped | Perfect | NC_000021.9:g.(?_1 0627687)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,627,687 | 10,813,996 |
| nssv8109461 | Remapped | Perfect | NC_000021.9:g.(?_1 0627687)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,627,687 | 10,813,996 |
| nssv8109462 | Remapped | Perfect | NC_000021.9:g.(?_1 0627687)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,627,687 | 10,813,996 |
| nssv8109467 | Remapped | Perfect | NC_000021.9:g.(?_1 0627687)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,627,687 | 10,813,996 |
| nssv8109468 | Remapped | Perfect | NC_000021.9:g.(?_1 0627687)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,627,687 | 10,813,996 |
| nssv8109473 | Remapped | Perfect | NC_000021.9:g.(?_1 0627687)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,627,687 | 10,813,996 |
| nssv8599049 | Remapped | Perfect | NC_000021.9:g.(?_1 0627687)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,627,687 | 10,813,996 |
| nssv8600325 | Remapped | Perfect | NC_000021.9:g.(?_1 0627687)_(10813996 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,627,687 | 10,813,996 |
| nssv8601133 | Remapped | Perfect | NC_000021.9:g.(?_1 0627687)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,627,687 | 10,813,996 |
| nssv8605326 | Remapped | Perfect | NC_000021.9:g.(?_1 0627687)_(10813996 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,627,687 | 10,813,996 |
| nssv8615302 | Remapped | Perfect | NC_000021.9:g.(?_1 0627687)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,627,687 | 10,813,996 |
| nssv8615563 | Remapped | Perfect | NC_000021.9:g.(?_1 0627687)_(10813996 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,627,687 | 10,813,996 |
| nssv8109397 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10884770 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,884,770 |
| nssv8109406 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10884770 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,884,770 |
| nssv8109441 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10884770 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,884,770 |
| nssv8109444 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10884770 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,884,770 |
| nssv8109461 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10884770 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,884,770 |
| nssv8109462 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10884770 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,884,770 |
| nssv8109467 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10884770 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,884,770 |
| nssv8109468 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10884770 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,884,770 |
| nssv8109473 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10884770 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,884,770 |
| nssv8599049 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10884770 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,884,770 |
| nssv8600325 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10884770 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,884,770 |
| nssv8601133 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10884770 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,884,770 |
| nssv8605326 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10884770 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,884,770 |
| nssv8615302 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10884770 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,884,770 |
| nssv8615563 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10884770 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,884,770 |
| nssv8109397 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9906641_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,906,641 | ||
| nssv8109406 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9906641_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,906,641 | ||
| nssv8109441 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9906641_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,906,641 | ||
| nssv8109444 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9906641_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,906,641 | ||
| nssv8109461 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9906641_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,906,641 | ||
| nssv8109462 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9906641_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,906,641 | ||
| nssv8109467 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9906641_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,906,641 | ||
| nssv8109468 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9906641_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,906,641 | ||
| nssv8109473 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9906641_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,906,641 | ||
| nssv8599049 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9906641_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,906,641 | ||
| nssv8600325 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9906641_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,906,641 | ||
| nssv8601133 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9906641_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,906,641 | ||
| nssv8605326 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9906641_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,906,641 | ||
| nssv8615302 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9906641_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,906,641 | ||
| nssv8615563 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9906641_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,906,641 |