nsv898991
- Organism: Homo sapiens
- Study:nstd71 (Xu et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:304,555
- 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: 2595 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 2595 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 601 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv898991 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 37,712,331 | 37,724,342 | 37,987,243 | 38,016,885 |
| nsv898991 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 38,106,133 | 38,118,144 | 38,381,045 | 38,410,687 |
| nsv898991 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 36,392,400 | 36,404,411 | 36,667,312 | 36,696,954 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1526483 | copy number gain | SP57593 | SNP array | SNP genotyping analysis | 11 |
| nssv1550324 | copy number gain | MS18406 | SNP array | SNP genotyping analysis | 19 |
| nssv1552329 | copy number gain | MS19341 | SNP array | SNP genotyping analysis | 15 |
| nssv1599182 | copy number gain | IS41410 | SNP array | SNP genotyping analysis | 90 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1526483 | Remapped | Perfect | NC_000012.12:g.(37 712331_37724342)_( 37987243_38016885) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,712,331 | 37,724,342 | 37,987,243 | 38,016,885 |
| nssv1550324 | Remapped | Perfect | NC_000012.12:g.(37 712331_37724342)_( 37987243_38016885) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,712,331 | 37,724,342 | 37,987,243 | 38,016,885 |
| nssv1552329 | Remapped | Perfect | NC_000012.12:g.(37 712331_37724342)_( 37987243_38016885) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,712,331 | 37,724,342 | 37,987,243 | 38,016,885 |
| nssv1599182 | Remapped | Perfect | NC_000012.12:g.(37 712331_37724342)_( 37987243_38016885) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,712,331 | 37,724,342 | 37,987,243 | 38,016,885 |
| nssv1526483 | Remapped | Perfect | NC_000012.11:g.(38 106133_38118144)_( 38381045_38410687) dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 38,106,133 | 38,118,144 | 38,381,045 | 38,410,687 |
| nssv1550324 | Remapped | Perfect | NC_000012.11:g.(38 106133_38118144)_( 38381045_38410687) dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 38,106,133 | 38,118,144 | 38,381,045 | 38,410,687 |
| nssv1552329 | Remapped | Perfect | NC_000012.11:g.(38 106133_38118144)_( 38381045_38410687) dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 38,106,133 | 38,118,144 | 38,381,045 | 38,410,687 |
| nssv1599182 | Remapped | Perfect | NC_000012.11:g.(38 106133_38118144)_( 38381045_38410687) dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 38,106,133 | 38,118,144 | 38,381,045 | 38,410,687 |
| nssv1526483 | Submitted genomic | NC_000012.10:g.(36 392400_36404411)_( 36667312_36696954) dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,392,400 | 36,404,411 | 36,667,312 | 36,696,954 | ||
| nssv1550324 | Submitted genomic | NC_000012.10:g.(36 392400_36404411)_( 36667312_36696954) dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,392,400 | 36,404,411 | 36,667,312 | 36,696,954 | ||
| nssv1552329 | Submitted genomic | NC_000012.10:g.(36 392400_36404411)_( 36667312_36696954) dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,392,400 | 36,404,411 | 36,667,312 | 36,696,954 | ||
| nssv1599182 | Submitted genomic | NC_000012.10:g.(36 392400_36404411)_( 36667312_36696954) dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,392,400 | 36,404,411 | 36,667,312 | 36,696,954 |