nsv3102463
- Organism: Homo sapiens
- Study:nstd144 (Gardner et al. 2017)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:340
- Description:Absence of a AluYb8 mobile element insertion that is present in the reference
- Publication(s):Gardner 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: 194 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 194 SVs from 54 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3102463 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 10,300,116 | 10,300,455 |
nsv3102463 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 10,203,433 | 10,203,772 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv14061961 | alu deletion | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14061961 | Remapped | Perfect | NC_000017.11:g.103 00116_10300455del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 10,300,116 | 10,300,455 |
nssv14061961 | Submitted genomic | NC_000017.10:g.102 03433_10203772del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 10,203,433 | 10,203,772 |