nsv1160903
- Organism: Homo sapiens
- Study:nstd111 (Lou et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:28,251
- 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: 683 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 683 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv1160903 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 212,294,228 | 212,297,443 | 212,321,823 | 212,322,478 |
| nsv1160903 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 213,158,953 | 213,162,168 | 213,186,548 | 213,187,203 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv4027544 | deletion | SNP array | Probe signal intensity | 1 |
| nssv4027547 | duplication | SNP array | Probe signal intensity | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv4027544 | Remapped | Perfect | NC_000002.12:g.(21 2294228_212297443) _(212321823_212322 478)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 212,294,228 | 212,297,443 | 212,321,823 | 212,322,478 |
| nssv4027547 | Remapped | Perfect | NC_000002.12:g.(21 2294228_212297443) _(212321823_212322 478)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 212,294,228 | 212,297,443 | 212,321,823 | 212,322,478 |
| nssv4027544 | Submitted genomic | NC_000002.11:g.(21 3158953_213162168) _(213186548_213187 203)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 213,158,953 | 213,162,168 | 213,186,548 | 213,187,203 | ||
| nssv4027547 | Submitted genomic | NC_000002.11:g.(21 3158953_213162168) _(213186548_213187 203)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 213,158,953 | 213,162,168 | 213,186,548 | 213,187,203 |