nsv3067134
- Organism: Homo sapiens
- Study:nstd143 (Shang 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:163,297
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: 1834 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1836 SVs from 93 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3067134 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 21,955 | 185,251 |
| nsv3067134 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 71,955 | 235,250 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14038733 | deletion | Sequencing | Read depth and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14038733 | Remapped | Good | NC_000016.10:g.219 55_185251del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 21,955 | 185,251 |
| nssv14038733 | Submitted genomic | NC_000016.9:g.7195 5_235250del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 71,955 | 235,250 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) |
|---|---|
| nssv14038733 | 4.49e-005 |