nsv3165415
- 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:306,193
- Description:qual score = 99
- 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: 956 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 956 SVs from 59 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3165415 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 32,352,828 | 32,659,020 |
nsv3165415 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 32,843,734 | 33,149,926 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv14222879 | copy number gain | Sequencing | Read depth |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14222879 | Remapped | Perfect | NC_000019.10:g.(?_ 32352828)_(3265902 0_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 32,352,828 | 32,659,020 |
nssv14222879 | Submitted genomic | NC_000019.9:g.(?_3 2843734)_(33149926 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 32,843,734 | 33,149,926 |