nsv3120930
- Organism: Homo sapiens
- Study:nstd151 (Exome Aggregation Consortium CNVs)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:110,389
- Description:qual score = 96
- Publication(s):Exome Aggregation Consortium CNVs
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: 644 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 644 SVs from 69 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3120930 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 185,247,354 | 185,357,742 |
nsv3120930 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 186,168,508 | 186,278,896 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv14131926 | copy number loss | Sequencing | Read depth |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14131926 | Remapped | Perfect | NC_000004.12:g.(?_ 185247354)_(185357 742_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 185,247,354 | 185,357,742 |
nssv14131926 | Submitted genomic | NC_000004.11:g.(?_ 186168508)_(186278 896_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 186,168,508 | 186,278,896 |