nsv4399714
- 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:105,333
- DGV: gssvL105908
- dbVar: essv5500616
- dbVar: essv5506776
- dbVar: essv5527009
- dbVar: essv5580976
- dbVar: essv5730981
- dbVar: essv6021518
- dbVar: essv6522095
- dbVar: essv6667515
- dbVar: essv6687203
- dbVar: essv6690368
- dbVar: essv6711786
- dbVar: essv6719346
- dbVar: essv6743108
- dbVar: essv6760087
- dbVar: essv6778120
- dbVar: essv6790461
- dbVar: essv6794632
- dbVar: essv6811268
- dbVar: essv6822400
- dbVar: essv6825565
- dbVar: essv6830127
- dbVar: essv6833711
- dbVar: essv6837400
- dbVar: essv6849053
- dbVar: essv6849055
- dbVar: essv6849056
- dbVar: essv6855156
- dbVar: essv6860766
- dbVar: essv6865533
- dbVar: essv6872673
- dbVar: essv6893482
- dbVar: essv6896747
- dbVar: essv6915021
- dbVar: essv6918717
- dbVar: essv6926728
- dbVar: essv6943333
- dbVar: essv6943334
- dbVar: essv6950039
- dbVar: essv6956921
- dbVar: essv6974704
- dbVar: nssv3655771
- dbVar: nssv3655772
- 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: 3007 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 3007 SVs from 113 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4399714 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 29,903,859 | 29,917,354 | 30,002,308 | 30,009,191 |
nsv4399714 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 29,871,636 | 29,885,131 | 29,970,085 | 29,976,968 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15738063 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15738063 | Remapped | Perfect | NC_000006.12:g.(29 903859_29917354)_( 30002308_30009191) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,903,859 | 29,917,354 | 30,002,308 | 30,009,191 |
nssv15738063 | Submitted genomic | NC_000006.11:g.(29 871636_29885131)_( 29970085_29976968) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 29,871,636 | 29,885,131 | 29,970,085 | 29,976,968 |