nsv1354963
- Organism: Homo sapiens
- Study:nstd122 (Duyzend et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:126,307
- 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: 1082 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 473 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 1247 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 441 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1354963 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 42,101,241 | 42,227,547 |
| nsv1354963 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187579.1 | Chr10|NT_1 87579.1 | 1 | 110,104 |
| nsv1354963 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 42,533,318 | 42,722,995 |
| nsv1354963 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 41,853,324 | 42,043,001 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv7915486 | copy number loss | SNP array | Probe signal intensity |
| nssv8435836 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv7915486 | Remapped | Pass | NT_187579.1:g.(?_1 )_(110104_?)del | GRCh38.p12 | Second Pass | NT_187579.1 | Chr10|NT_1 87579.1 | 1 | 110,104 |
| nssv8435836 | Remapped | Pass | NT_187579.1:g.(?_1 )_(110104_?)dup | GRCh38.p12 | Second Pass | NT_187579.1 | Chr10|NT_1 87579.1 | 1 | 110,104 |
| nssv7915486 | Remapped | Pass | NC_000010.11:g.(?_ 42101241)_(4222754 7_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 42,101,241 | 42,227,547 |
| nssv8435836 | Remapped | Pass | NC_000010.11:g.(?_ 42101241)_(4222754 7_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 42,101,241 | 42,227,547 |
| nssv7915486 | Remapped | Perfect | NC_000010.10:g.(?_ 42533318)_(4272299 5_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 42,533,318 | 42,722,995 |
| nssv8435836 | Remapped | Perfect | NC_000010.10:g.(?_ 42533318)_(4272299 5_?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 42,533,318 | 42,722,995 |
| nssv7915486 | Submitted genomic | NC_000010.9:g.(?_4 1853324)_(42043001 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 41,853,324 | 42,043,001 | ||
| nssv8435836 | Submitted genomic | NC_000010.9:g.(?_4 1853324)_(42043001 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 41,853,324 | 42,043,001 |