nsv1038373
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:160,888
- Publication(s):Coe et al. 2014
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: 1162 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 640 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 1162 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 425 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1038373 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 16,534,193 | 16,695,080 |
| nsv1038373 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,195,253 | 2,356,004 |
| nsv1038373 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 16,628,050 | 16,788,937 |
| nsv1038373 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 16,535,551 | 16,696,438 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3558066 | copy number loss | SNP array | Probe signal intensity |
| nssv3558067 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3558066 | Remapped | Good | NT_187607.1:g.(?_2 195253)_(2356004_? )del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,195,253 | 2,356,004 |
| nssv3558067 | Remapped | Good | NT_187607.1:g.(?_2 195253)_(2356004_? )dup | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,195,253 | 2,356,004 |
| nssv3558066 | Remapped | Perfect | NC_000016.10:g.(?_ 16534193)_(1669508 0_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 16,534,193 | 16,695,080 |
| nssv3558067 | Remapped | Perfect | NC_000016.10:g.(?_ 16534193)_(1669508 0_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 16,534,193 | 16,695,080 |
| nssv3558066 | Remapped | Perfect | NC_000016.9:g.(?_1 6628050)_(16788937 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 16,628,050 | 16,788,937 |
| nssv3558067 | Remapped | Perfect | NC_000016.9:g.(?_1 6628050)_(16788937 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 16,628,050 | 16,788,937 |
| nssv3558066 | Submitted genomic | NC_000016.8:g.(?_1 6535551)_(16696438 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 16,535,551 | 16,696,438 | ||
| nssv3558067 | Submitted genomic | NC_000016.8:g.(?_1 6535551)_(16696438 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 16,535,551 | 16,696,438 |