nsv3067130
- 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:61,821
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: 1180 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1180 SVs from 88 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3067130 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 146,191 | 208,011 |
| nsv3067130 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 196,190 | 258,010 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14038737 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14038737 | Remapped | Perfect | NC_000016.10:g.146 191_208011del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 146,191 | 208,011 |
| nssv14038737 | Submitted genomic | NC_000016.9:g.1961 90_258010del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 196,190 | 258,010 |
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) |
|---|---|
| nssv14038737 | 4.49e-005 |