nsv3117042
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,491
- Publication(s):Lu et al. 2017
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: 1923 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 1923 SVs from 53 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3117042 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 22,230,433 | 22,233,923 |
nsv3117042 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 22,698,316 | 22,701,806 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14095103 | deletion | sample353 | Oligo aCGH | Probe signal intensity | 46 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14095103 | Remapped | Perfect | NC_000014.9:g.(?_2 2230433)_(22233923 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,230,433 | 22,233,923 |
nssv14095103 | Submitted genomic | NC_000014.8:g.(?_2 2698316)_(22701806 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,698,316 | 22,701,806 |