nsv4401563
- 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:8,625
- DGV: gssvL6828
- dbVar: essv10239584
- dbVar: essv10239585
- dbVar: essv10239586
- dbVar: essv10239587
- dbVar: essv10239588
- dbVar: essv10239589
- dbVar: essv10239590
- dbVar: essv10239591
- dbVar: essv10239592
- dbVar: essv5411653
- dbVar: essv55204
- dbVar: essv5651199
- dbVar: essv5657034
- dbVar: essv6424512
- dbVar: essv6441265
- dbVar: essv6570012
- dbVar: nssv2763028
- 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: 191 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 191 SVs from 33 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4401563 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 192,705,875 | 192,705,898 | 192,714,493 | 192,714,499 |
nsv4401563 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 192,675,005 | 192,675,028 | 192,683,623 | 192,683,629 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15715504 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15715504 | Remapped | Perfect | NC_000001.11:g.(19 2705875_192705898) _(192714493_192714 499)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 192,705,875 | 192,705,898 | 192,714,493 | 192,714,499 |
nssv15715504 | Submitted genomic | NC_000001.10:g.(19 2675005_192675028) _(192683623_192683 629)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 192,675,005 | 192,675,028 | 192,683,623 | 192,683,629 |