nsv4383256
- 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:382,458
- 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: 1052 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 523 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 1008 SVs from 77 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4383256 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 65,970,699 | 66,353,156 |
| nsv4383256 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_012132916.1 | Chr3|NW_01 2132916.1 | 1 | 330,052 |
| nsv4383256 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 65,956,374 | 66,403,580 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15700954 | copy number gain | 144445 | SNP array | Genotyping | 25 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15700954 | Remapped | Pass | NW_012132916.1:g.( ?_1)_(330052_?)dup | GRCh38.p12 | Second Pass | NW_012132916.1 | Chr3|NW_01 2132916.1 | 1 | 330,052 |
| nssv15700954 | Remapped | Pass | NC_000003.12:g.(?_ 65970699)_(6635315 6_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 65,970,699 | 66,353,156 |
| nssv15700954 | Submitted genomic | NC_000003.11:g.(?_ 65956374)_(6640358 0_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 65,956,374 | 66,403,580 |