nsv943439
- Organism: Homo sapiens
- Study:nstd84 (de Ligt et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH, SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:83,710
- Publication(s):de Ligt et al. 2013
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: 422 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 422 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv943439 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 72,542,279 | 72,542,279 | 72,625,988 | 72,625,988 |
| nsv943439 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 73,007,962 | 73,007,962 | 73,091,671 | 73,091,671 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1665130 | Remapped | Perfect | NC_000001.11:g.(72 542279_?)_(?_72620 519)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,542,279 | 72,620,519 |
| nssv1665455 | Remapped | Perfect | NC_000001.11:g.(72 545809_?)_(?_72625 988)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,545,809 | 72,625,988 |
| nssv1665130 | Submitted genomic | NC_000001.10:g.(73 007962_?)_(?_73086 202)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,007,962 | 73,086,202 | ||
| nssv1665455 | Submitted genomic | NC_000001.10:g.(73 011492_?)_(?_73091 671)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 73,011,492 | 73,091,671 |