nsv519543
- Organism: Homo sapiens
- Study:nstd21 (Shaikh 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:220,692
- Publication(s):Shaikh 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: 710 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 318 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 710 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 29 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv519543 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 86,913,552 | 87,134,243 |
| nsv519543 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_015148967.1 | Chr12|NW_0 15148967.1 | 145,183 | 315,610 |
| nsv519543 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 87,307,329 | 87,528,020 |
| nsv519543 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 85,809,797 | 86,030,488 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Zygosity |
|---|---|---|---|---|
| nssv696912 | copy number loss | SNP array | SNP genotyping analysis | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv696912 | Remapped | Pass | NW_015148967.1:g.( ?_145183)_(315610_ ?)del | GRCh38.p12 | Second Pass | NW_015148967.1 | Chr12|NW_0 15148967.1 | 145,183 | 315,610 |
| nssv696912 | Remapped | Perfect | NC_000012.12:g.(?_ 86913552)_(8713424 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,913,552 | 87,134,243 |
| nssv696912 | Remapped | Perfect | NC_000012.11:g.(?_ 87307329)_(8752802 0_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 87,307,329 | 87,528,020 |
| nssv696912 | Submitted genomic | NC_000012.9:g.(?_8 5809797)_(86030488 _?)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 85,809,797 | 86,030,488 |