nsv4411194
- 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:1,011,996
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3897 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 3897 SVs from 99 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4411194 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 45,377,176 | 45,574,980 | 46,328,520 | 46,389,171 |
nsv4411194 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 45,377,278 | 45,575,082 | 46,328,622 | 46,389,273 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15711825 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15711825 | Remapped | Perfect | NC_000005.10:g.(45 377176_45574980)_( 46328520_46389171) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 45,377,176 | 45,574,980 | 46,328,520 | 46,389,171 |
nssv15711825 | Submitted genomic | NC_000005.9:g.(453 77278_45575082)_(4 6328622_46389273)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 45,377,278 | 45,575,082 | 46,328,622 | 46,389,273 |