nsv889330
- Organism: Homo sapiens
- Study:nstd71 (Xu 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:62,937
- Publication(s):Xu 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: 589 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 335 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 589 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 351 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv889330 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 143,772,553 | 143,780,181 | 143,825,464 | 143,835,489 |
| nsv889330 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_018654714.1 | Chr7|NW_01 8654714.1 | 316,876 | 316,876 | 379,793 | 379,793 |
| nsv889330 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 143,469,646 | 143,477,274 | 143,522,557 | 143,532,582 |
| nsv889330 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 143,100,579 | 143,108,207 | 143,153,490 | 143,163,515 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1549475 | copy number gain | MS18248 | SNP array | SNP genotyping analysis | 12 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1549475 | Remapped | Good | NW_018654714.1:g.( 316876_316876)_(37 9793_379793)dup | GRCh38.p12 | Second Pass | NW_018654714.1 | Chr7|NW_01 8654714.1 | 316,876 | 316,876 | 379,793 | 379,793 |
| nssv1549475 | Remapped | Perfect | NC_000007.14:g.(14 3772553_143780181) _(143825464_143835 489)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 143,772,553 | 143,780,181 | 143,825,464 | 143,835,489 |
| nssv1549475 | Remapped | Perfect | NC_000007.13:g.(14 3469646_143477274) _(143522557_143532 582)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 143,469,646 | 143,477,274 | 143,522,557 | 143,532,582 |
| nssv1549475 | Submitted genomic | NC_000007.12:g.(14 3100579_143108207) _(143153490_143163 515)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 143,100,579 | 143,108,207 | 143,153,490 | 143,163,515 |