nsv4423855
- 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:1,731
- DGV: gssvL51994
- dbVar: essv45045
- dbVar: nssv2998838
- dbVar: nssv877609
- dbVar: nssv877612
- dbVar: nssv877613
- dbVar: nssv877617
- dbVar: nssv877623
- dbVar: nssv877625
- dbVar: nssv877627
- dbVar: nssv877628
- dbVar: nssv877633
- dbVar: nssv877638
- dbVar: nssv877641
- dbVar: nssv877648
- dbVar: nssv877652
- dbVar: nssv877654
- dbVar: nssv877655
- dbVar: nssv877657
- dbVar: nssv877658
- dbVar: nssv877661
- dbVar: nssv877665
- 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: 444 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 444 SVs from 29 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4423855 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 5,294,875 | 5,294,875 | 5,296,605 | 5,296,605 |
nsv4423855 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 5,294,874 | 5,294,874 | 5,296,604 | 5,296,604 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15725552 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15725552 | Remapped | Perfect | NC_000018.10:g.(52 94875_5294875)_(52 96605_5296605)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 5,294,875 | 5,294,875 | 5,296,605 | 5,296,605 |
nssv15725552 | Submitted genomic | NC_000018.9:g.(529 4874_5294874)_(529 6604_5296604)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 5,294,874 | 5,294,874 | 5,296,604 | 5,296,604 |