nsv468916
- Organism: Homo sapiens
- Study:nstd27 (Itsara 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:140,608
- Publication(s):Itsara 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: 982 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 381 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 982 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 33 SVs from 9 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv468916 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 1,375,171 | 1,515,778 |
| nsv468916 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 58,365 | 198,149 |
| nsv468916 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 1,378,943 | 1,519,550 |
| nsv468916 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 1,357,950 | 1,498,557 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv543960 | copy number gain | HGDP00766 | SNP array | SNP genotyping analysis | 3 | 13 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv543960 | Remapped | Good | NT_187529.1:g.(?_5 8365)_(198149_?)du p | GRCh38.p12 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 58,365 | 198,149 |
| nssv543960 | Remapped | Perfect | NC_000002.12:g.(?_ 1375171)_(1515778_ ?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 1,375,171 | 1,515,778 |
| nssv543960 | Remapped | Perfect | NC_000002.11:g.(?_ 1378943)_(1519550_ ?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 1,378,943 | 1,519,550 |
| nssv543960 | Submitted genomic | NC_000002.9:g.(?_1 357950)_(1498557_? )dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 1,357,950 | 1,498,557 |