nsv601570
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:174,726
- Publication(s):Cooper et al. 2011
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: 3599 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 1833 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 3599 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 1900 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 1264 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 1851 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv601570 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 31,308,974 | 31,483,699 |
| nsv601570 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 2,611,198 | 2,755,941 |
| nsv601570 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 31,276,751 | 31,451,476 |
| nsv601570 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_7 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 2,610,496 | 2,755,239 |
| nsv601570 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_4 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 2,623,577 | 2,742,426 |
| nsv601570 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 31,384,730 | 31,559,455 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1052564 | copy number loss | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1052564 | Remapped | Pass | NT_167249.2:g.(?_2 611198)_(2755941_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 2,611,198 | 2,755,941 |
| nssv1052564 | Remapped | Perfect | NC_000006.12:g.(?_ 31308974)_(3148369 9_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,308,974 | 31,483,699 |
| nssv1052564 | Remapped | Pass | NT_167249.1:g.(?_2 610496)_(2755239_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 2,610,496 | 2,755,239 |
| nssv1052564 | Remapped | Pass | NT_167246.1:g.(?_2 623577)_(2742426_? )delNT_167246.1:g. (?_2623577)_(27424 26_?)del | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 2,623,577 | 2,742,426 |
| nssv1052564 | Remapped | Perfect | NC_000006.11:g.(?_ 31276751)_(3145147 6_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,276,751 | 31,451,476 |
| nssv1052564 | Submitted genomic | NC_000006.10:g.(?_ 31384730)_(3155945 5_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 31,384,730 | 31,559,455 |