nsv4365495
- 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:65,376
- 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: 910 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 350 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 911 SVs from 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4365495 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 11,342,610 | 11,407,985 |
| nsv4365495 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | 537,573 | 572,349 |
| nsv4365495 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 11,495,544 | 11,560,919 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15619618 | copy number loss | 1-0954-003 | SNP array | Genotyping | 24 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15619618 | Remapped | Pass | NT_187658.1:g.(?_5 37573)_(572349_?)d el | GRCh38.p12 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | 537,573 | 572,349 |
| nssv15619618 | Remapped | Perfect | NC_000012.12:g.(?_ 11342610)_(1140798 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,342,610 | 11,407,985 |
| nssv15619618 | Submitted genomic | NC_000012.11:g.(?_ 11495544)_(1156091 9_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,495,544 | 11,560,919 |