nsv4384649
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:47,526
- Publication(s):Zarrei et al. 2019
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: 311 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 311 SVs from 54 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4384649 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 86,987,299 | 87,034,824 |
| nsv4384649 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_015148967.1 | Chr12|NW_0 15148967.1 | 218,921 | 266,446 |
| nsv4384649 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 87,381,076 | 87,428,601 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15695953 | copy number gain | 150331 | SNP array | Genotyping | 19 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15695953 | Remapped | Perfect | NW_015148967.1:g.( ?_218921)_(266446_ ?)dup | GRCh38.p12 | Second Pass | NW_015148967.1 | Chr12|NW_0 15148967.1 | 218,921 | 266,446 |
| nssv15695953 | Remapped | Perfect | NC_000012.12:g.(?_ 86987299)_(8703482 4_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 86,987,299 | 87,034,824 |
| nssv15695953 | Submitted genomic | NC_000012.11:g.(?_ 87381076)_(8742860 1_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 87,381,076 | 87,428,601 |