nsv1161001
- Organism: Homo sapiens
- Study:nstd111 (Lou et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:95,219
- Publication(s):Lou et al. 2015
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: 512 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 512 SVs from 58 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv1161001 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 163,135,920 | 163,139,327 | 163,228,434 | 163,231,138 |
| nsv1161001 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 162,853,708 | 162,857,115 | 162,946,222 | 162,948,926 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv4028350 | deletion | SNP array | Probe signal intensity | 1 |
| nssv4028351 | deletion | SNP array | Probe signal intensity | 1 |
| nssv4028352 | deletion | SNP array | Probe signal intensity | 1 |
| nssv4028353 | deletion | SNP array | Probe signal intensity | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv4028350 | Remapped | Perfect | NC_000003.12:g.(16 3135920_163139327) _(163228434_163231 138)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 163,135,920 | 163,139,327 | 163,228,434 | 163,231,138 |
| nssv4028351 | Remapped | Perfect | NC_000003.12:g.(16 3135920_163139327) _(163228434_163231 138)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 163,135,920 | 163,139,327 | 163,228,434 | 163,231,138 |
| nssv4028352 | Remapped | Perfect | NC_000003.12:g.(16 3135920_163139327) _(163228434_163231 138)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 163,135,920 | 163,139,327 | 163,228,434 | 163,231,138 |
| nssv4028353 | Remapped | Perfect | NC_000003.12:g.(16 3135920_163139327) _(163228434_163231 138)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 163,135,920 | 163,139,327 | 163,228,434 | 163,231,138 |
| nssv4028350 | Submitted genomic | NC_000003.11:g.(16 2853708_162857115) _(162946222_162948 926)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 162,853,708 | 162,857,115 | 162,946,222 | 162,948,926 | ||
| nssv4028351 | Submitted genomic | NC_000003.11:g.(16 2853708_162857115) _(162946222_162948 926)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 162,853,708 | 162,857,115 | 162,946,222 | 162,948,926 | ||
| nssv4028352 | Submitted genomic | NC_000003.11:g.(16 2853708_162857115) _(162946222_162948 926)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 162,853,708 | 162,857,115 | 162,946,222 | 162,948,926 | ||
| nssv4028353 | Submitted genomic | NC_000003.11:g.(16 2853708_162857115) _(162946222_162948 926)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 162,853,708 | 162,857,115 | 162,946,222 | 162,948,926 |