nsv1382105
- 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:146,279
- 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: 3402 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 3407 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 2261 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1382105 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 32,478,126 | 32,624,404 |
| nsv1382105 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 32,489,447 | 32,635,725 |
| nsv1382105 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 32,396,948 | 32,543,226 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv8041790 | copy number loss | SNP array | Probe signal intensity |
| nssv8041824 | copy number loss | SNP array | Probe signal intensity |
| nssv8041825 | copy number loss | SNP array | Probe signal intensity |
| nssv8041831 | copy number gain | SNP array | Probe signal intensity |
| nssv8548748 | copy number loss | SNP array | Probe signal intensity |
| nssv8556547 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv8041790 | Remapped | Perfect | NC_000016.10:g.(?_ 32478126)_(3262440 4_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,478,126 | 32,624,404 |
| nssv8041824 | Remapped | Perfect | NC_000016.10:g.(?_ 32478126)_(3262440 4_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,478,126 | 32,624,404 |
| nssv8041825 | Remapped | Perfect | NC_000016.10:g.(?_ 32478126)_(3262440 4_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,478,126 | 32,624,404 |
| nssv8041831 | Remapped | Perfect | NC_000016.10:g.(?_ 32478126)_(3262440 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,478,126 | 32,624,404 |
| nssv8548748 | Remapped | Perfect | NC_000016.10:g.(?_ 32478126)_(3262440 4_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,478,126 | 32,624,404 |
| nssv8556547 | Remapped | Perfect | NC_000016.10:g.(?_ 32478126)_(3262440 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,478,126 | 32,624,404 |
| nssv8041790 | Remapped | Perfect | NC_000016.9:g.(?_3 2489447)_(32635725 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,489,447 | 32,635,725 |
| nssv8041824 | Remapped | Perfect | NC_000016.9:g.(?_3 2489447)_(32635725 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,489,447 | 32,635,725 |
| nssv8041825 | Remapped | Perfect | NC_000016.9:g.(?_3 2489447)_(32635725 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,489,447 | 32,635,725 |
| nssv8041831 | Remapped | Perfect | NC_000016.9:g.(?_3 2489447)_(32635725 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,489,447 | 32,635,725 |
| nssv8548748 | Remapped | Perfect | NC_000016.9:g.(?_3 2489447)_(32635725 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,489,447 | 32,635,725 |
| nssv8556547 | Remapped | Perfect | NC_000016.9:g.(?_3 2489447)_(32635725 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,489,447 | 32,635,725 |
| nssv8041790 | Submitted genomic | NC_000016.8:g.(?_3 2396948)_(32543226 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,396,948 | 32,543,226 | ||
| nssv8041824 | Submitted genomic | NC_000016.8:g.(?_3 2396948)_(32543226 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,396,948 | 32,543,226 | ||
| nssv8041825 | Submitted genomic | NC_000016.8:g.(?_3 2396948)_(32543226 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,396,948 | 32,543,226 | ||
| nssv8041831 | Submitted genomic | NC_000016.8:g.(?_3 2396948)_(32543226 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,396,948 | 32,543,226 | ||
| nssv8548748 | Submitted genomic | NC_000016.8:g.(?_3 2396948)_(32543226 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,396,948 | 32,543,226 | ||
| nssv8556547 | Submitted genomic | NC_000016.8:g.(?_3 2396948)_(32543226 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,396,948 | 32,543,226 |