nsv527164
- Organism: Homo sapiens
- Study:nstd21 (Shaikh et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:221,998
- Publication(s):Shaikh et al. 2009
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: 658 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 168 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 658 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 84 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv527164 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 128,460,766 | 128,682,763 |
| nsv527164 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187567.1 | Chr8|NT_18 7567.1 | 1 | 128,041 |
| nsv527164 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 129,473,012 | 129,695,009 |
| nsv527164 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 129,542,194 | 129,764,191 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv703558 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv703558 | Remapped | Pass | NT_187567.1:g.(?_1 )_(128041_?)del | GRCh38.p12 | Second Pass | NT_187567.1 | Chr8|NT_18 7567.1 | 1 | 128,041 |
| nssv703558 | Remapped | Perfect | NC_000008.11:g.(?_ 128460766)_(128682 763_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 128,460,766 | 128,682,763 |
| nssv703558 | Remapped | Perfect | NC_000008.10:g.(?_ 129473012)_(129695 009_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 129,473,012 | 129,695,009 |
| nssv703558 | Submitted genomic | NC_000008.9:g.(?_1 29542194)_(1297641 91_?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 129,542,194 | 129,764,191 |