nsv4430402
- Organism: Homo sapiens
- Study:nstd174 (DGV Gold Standard)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:250,303
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2226 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 2225 SVs from 81 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4430402 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 37,463,949 | 37,463,949 | 37,650,577 | 37,714,251 |
nsv4430402 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 37,857,751 | 37,857,751 | 38,044,379 | 38,108,053 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15708976 | copy number gain | Multiple | Multiple |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15708976 | Remapped | Perfect | NC_000012.12:g.(37 463949_37463949)_( 37650577_37714251) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,463,949 | 37,463,949 | 37,650,577 | 37,714,251 |
nssv15708976 | Submitted genomic | NC_000012.11:g.(37 857751_37857751)_( 38044379_38108053) dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 37,857,751 | 37,857,751 | 38,044,379 | 38,108,053 |