nsv875847
- 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:47,988
- 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: 203 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 203 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv875847 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 216,945,779 | 216,946,741 | 216,991,419 | 216,993,766 |
| nsv875847 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 217,810,502 | 217,811,464 | 217,856,142 | 217,858,489 |
| nsv875847 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 217,518,747 | 217,519,709 | 217,564,387 | 217,566,734 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1572870 | copy number gain | IS33188 | SNP array | SNP genotyping analysis | 19 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1572870 | Remapped | Perfect | NC_000002.12:g.(21 6945779_216946741) _(216991419_216993 766)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 216,945,779 | 216,946,741 | 216,991,419 | 216,993,766 |
| nssv1572870 | Remapped | Perfect | NC_000002.11:g.(21 7810502_217811464) _(217856142_217858 489)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 217,810,502 | 217,811,464 | 217,856,142 | 217,858,489 |
| nssv1572870 | Submitted genomic | NC_000002.10:g.(21 7518747_217519709) _(217564387_217566 734)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 217,518,747 | 217,519,709 | 217,564,387 | 217,566,734 |