nsv4423862
- 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:340,753
- DGV: gssvL18990
- dbVar: nssv3503211
- dbVar: nssv3503945
- dbVar: nssv3505902
- dbVar: nssv3506072
- dbVar: nssv3507963
- dbVar: nssv3510906
- dbVar: nssv3512256
- dbVar: nssv3513595
- dbVar: nssv3516470
- dbVar: nssv3518517
- dbVar: nssv3522194
- dbVar: nssv774764
- dbVar: nssv774846
- dbVar: nssv774847
- dbVar: nssv774849
- 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: 2298 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 2169 SVs from 83 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4423862 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 54,928,232 | 54,928,232 | 55,268,984 | 55,268,984 |
nsv4423862 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 54,695,707 | 54,701,961 | 54,940,612 | 55,036,460 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15717949 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15717949 | Remapped | Perfect | NC_000011.10:g.(54 928232_54928232)_( 55268984_55268984) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,928,232 | 54,928,232 | 55,268,984 | 55,268,984 |
nssv15717949 | Submitted genomic | NC_000011.9:g.(546 95707_54701961)_(5 4940612_55036460)d el | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,695,707 | 54,701,961 | 54,940,612 | 55,036,460 |