nsv557461
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:30,148
- Publication(s):Cooper 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: 550 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 551 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 181 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv557461 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 10,416,038 | 10,446,185 |
| nsv557461 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 10,568,637 | 10,598,784 |
| nsv557461 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 10,459,904 | 10,490,051 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv788020 | copy number loss | SNP array | SNP genotyping analysis |
| nssv788021 | copy number loss | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv788020 | Remapped | Perfect | NC_000012.12:g.(?_ 10416038)_(1044618 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,416,038 | 10,446,185 |
| nssv788021 | Remapped | Perfect | NC_000012.12:g.(?_ 10416038)_(1044618 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,416,038 | 10,446,185 |
| nssv788020 | Remapped | Perfect | NC_000012.11:g.(?_ 10568637)_(1059878 4_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 10,568,637 | 10,598,784 |
| nssv788021 | Remapped | Perfect | NC_000012.11:g.(?_ 10568637)_(1059878 4_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 10,568,637 | 10,598,784 |
| nssv788020 | Submitted genomic | NC_000012.10:g.(?_ 10459904)_(1049005 1_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 10,459,904 | 10,490,051 | ||
| nssv788021 | Submitted genomic | NC_000012.10:g.(?_ 10459904)_(1049005 1_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 10,459,904 | 10,490,051 |