nsv1391369
- 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:168,594
- 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: 2407 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 2371 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 895 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1391369 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 10,645,403 | 10,813,996 |
| nsv1391369 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,867,054 |
| nsv1391369 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 9,720,332 | 9,888,925 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv8109386 | copy number loss | SNP array | Probe signal intensity |
| nssv8109387 | copy number loss | SNP array | Probe signal intensity |
| nssv8109425 | copy number loss | SNP array | Probe signal intensity |
| nssv8603563 | copy number loss | SNP array | Probe signal intensity |
| nssv8604170 | copy number gain | SNP array | Probe signal intensity |
| nssv8614252 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv8109386 | Remapped | Perfect | NC_000021.9:g.(?_1 0645403)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,645,403 | 10,813,996 |
| nssv8109387 | Remapped | Perfect | NC_000021.9:g.(?_1 0645403)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,645,403 | 10,813,996 |
| nssv8109425 | Remapped | Perfect | NC_000021.9:g.(?_1 0645403)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,645,403 | 10,813,996 |
| nssv8603563 | Remapped | Perfect | NC_000021.9:g.(?_1 0645403)_(10813996 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,645,403 | 10,813,996 |
| nssv8604170 | Remapped | Perfect | NC_000021.9:g.(?_1 0645403)_(10813996 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,645,403 | 10,813,996 |
| nssv8614252 | Remapped | Perfect | NC_000021.9:g.(?_1 0645403)_(10813996 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,645,403 | 10,813,996 |
| nssv8109386 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10867054 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,867,054 |
| nssv8109387 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10867054 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,867,054 |
| nssv8109425 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10867054 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,867,054 |
| nssv8603563 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10867054 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,867,054 |
| nssv8604170 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10867054 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,867,054 |
| nssv8614252 | Remapped | Perfect | NC_000021.8:g.(?_1 0698461)_(10867054 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 10,698,461 | 10,867,054 |
| nssv8109386 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9888925_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,888,925 | ||
| nssv8109387 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9888925_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,888,925 | ||
| nssv8109425 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9888925_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,888,925 | ||
| nssv8603563 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9888925_? )del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,888,925 | ||
| nssv8604170 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9888925_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,888,925 | ||
| nssv8614252 | Submitted genomic | NC_000021.7:g.(?_9 720332)_(9888925_? )dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 9,720,332 | 9,888,925 |