nsv4421015
- 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:471,785
- DGV: gssvG8351
- dbVar: essv9801296
- dbVar: nssv3522871
- dbVar: nssv3522883
- dbVar: nssv3522935
- dbVar: nssv3522936
- dbVar: nssv3522937
- dbVar: nssv3522938
- dbVar: nssv3522939
- dbVar: nssv3522940
- dbVar: nssv3523026
- dbVar: nssv3523027
- dbVar: nssv3523028
- dbVar: nssv793236
- dbVar: nssv793431
- dbVar: nssv793432
- dbVar: nssv793459
- dbVar: nssv793460
- dbVar: nssv793461
- dbVar: nssv793462
- dbVar: nssv793463
- dbVar: nssv793464
- dbVar: nssv793465
- dbVar: nssv793494
- dbVar: nssv793577
- dbVar: nssv793578
- dbVar: nssv793579
- dbVar: nssv793580
- Overlapping Genes
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: 3748 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 3747 SVs from 91 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4421015 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 37,481,330 | 37,481,330 | 37,864,833 | 37,953,114 |
nsv4421015 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 37,875,132 | 37,875,132 | 38,258,635 | 38,346,916 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15708974 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15708974 | Remapped | Perfect | NC_000012.12:g.(37 481330_37481330)_( 37864833_37953114) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,481,330 | 37,481,330 | 37,864,833 | 37,953,114 |
nssv15708974 | Submitted genomic | NC_000012.11:g.(37 875132_37875132)_( 38258635_38346916) dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 37,875,132 | 37,875,132 | 38,258,635 | 38,346,916 |