nsv4371497
- 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:47,643
- 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: 316 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 63 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 316 SVs from 39 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4371497 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 129,779,957 | 129,827,599 |
| nsv4371497 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_019805494.1 | Chr8|NW_01 9805494.1 | 64,330 | 103,072 |
| nsv4371497 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 130,792,203 | 130,839,845 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15692475 | copy number gain | OCD62-CI-218 | SNP array | Genotyping | 18 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15692475 | Remapped | Pass | NW_019805494.1:g.( ?_64330)_(103072_? )dup | GRCh38.p12 | Second Pass | NW_019805494.1 | Chr8|NW_01 9805494.1 | 64,330 | 103,072 |
| nssv15692475 | Remapped | Perfect | NC_000008.11:g.(?_ 129779957)_(129827 599_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 129,779,957 | 129,827,599 |
| nssv15692475 | Submitted genomic | NC_000008.10:g.(?_ 130792203)_(130839 845_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 130,792,203 | 130,839,845 |