nsv4400178
- 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:389,794
- DGV: gssvL6611
- dbVar: essv10227040
- dbVar: essv10227041
- dbVar: essv10227042
- dbVar: essv10227043
- dbVar: essv10227044
- dbVar: essv10227045
- dbVar: essv10227046
- dbVar: essv10227047
- dbVar: essv10227048
- dbVar: essv10227049
- dbVar: essv10227050
- dbVar: essv10227051
- dbVar: essv10227052
- dbVar: essv10227053
- dbVar: essv10227054
- dbVar: essv10227055
- dbVar: essv10227056
- dbVar: essv10227057
- dbVar: essv10227058
- dbVar: essv10227059
- dbVar: essv10227060
- dbVar: essv10227061
- dbVar: essv10227062
- dbVar: essv10227063
- dbVar: essv10227064
- dbVar: essv10227065
- dbVar: essv10227066
- dbVar: essv10227067
- dbVar: essv10227068
- dbVar: essv10227069
- dbVar: essv10227070
- dbVar: essv10227071
- dbVar: essv10227072
- dbVar: essv10227073
- dbVar: essv10227074
- dbVar: essv10227075
- dbVar: essv10227076
- dbVar: essv10227077
- dbVar: essv10227078
- dbVar: essv10227079
- dbVar: essv10227080
- dbVar: essv10227081
- dbVar: essv10227082
- dbVar: essv10227083
- dbVar: essv10227084
- dbVar: essv10227085
- dbVar: essv5026478
- dbVar: essv5040633
- dbVar: essv5063265
- dbVar: essv5063692
- dbVar: essv5071189
- dbVar: essv5078526
- dbVar: essv5103107
- dbVar: essv5131558
- dbVar: essv5146478
- dbVar: essv5150416
- dbVar: essv5151080
- dbVar: essv5158877
- dbVar: essv5470894
- dbVar: essv6933446
- dbVar: essv9800256
- dbVar: essv9800267
- dbVar: nssv1422402
- dbVar: nssv1436373
- dbVar: nssv22426
- dbVar: nssv23390
- dbVar: nssv3487251
- dbVar: nssv3491095
- dbVar: nssv3493036
- dbVar: nssv3494626
- dbVar: nssv3704847
- 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: 1964 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1964 SVs from 92 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4400178 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 189,255,731 | 189,255,731 | 189,645,524 | 189,645,524 |
nsv4400178 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 189,224,862 | 189,321,512 | 189,545,020 | 189,614,654 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15715438 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15715438 | Remapped | Perfect | NC_000001.11:g.(18 9255731_189255731) _(189645524_189645 524)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,255,731 | 189,255,731 | 189,645,524 | 189,645,524 |
nssv15715438 | Submitted genomic | NC_000001.10:g.(18 9224862_189321512) _(189545020_189614 654)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,224,862 | 189,321,512 | 189,545,020 | 189,614,654 |