nsv4393171
- 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:289,022
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1430 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1430 SVs from 95 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4393171 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 21,195,302 | 21,229,537 | 21,464,456 | 21,484,323 |
nsv4393171 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 21,195,411 | 21,229,646 | 21,464,565 | 21,484,432 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15736187 | copy number loss | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15736187 | Remapped | Perfect | NC_000005.10:g.(21 195302_21229537)_( 21464456_21484323) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,195,302 | 21,229,537 | 21,464,456 | 21,484,323 |
nssv15736187 | Submitted genomic | NC_000005.9:g.(211 95411_21229646)_(2 1464565_21484432)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 21,195,411 | 21,229,646 | 21,464,565 | 21,484,432 |