nsv482355
- Organism: Homo sapiens
- Study:nstd40 (Sharp et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:150,420
- Publication(s):Sharp et al. 2006
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: 364 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 364 SVs from 45 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv482355 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 142,252,725 | 142,403,144 |
nsv482355 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 143,010,294 | 143,160,713 |
nsv482355 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | GPC_000000200.1 | Chr2 | 143,221,063 | 143,371,482 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv3006097 | copy number loss | BAC aCGH | Probe signal intensity |
nssv3006109 | copy number loss | BAC aCGH | Probe signal intensity |
nssv3006452 | copy number loss | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv3006097 | Remapped | Perfect | NC_000002.12:g.(?_ 142252725)_(142403 144_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 142,252,725 | 142,403,144 |
nssv3006109 | Remapped | Perfect | NC_000002.12:g.(?_ 142252725)_(142403 144_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 142,252,725 | 142,403,144 |
nssv3006452 | Remapped | Perfect | NC_000002.12:g.(?_ 142252725)_(142403 144_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 142,252,725 | 142,403,144 |
nssv3006097 | Remapped | Perfect | NC_000002.11:g.(?_ 143010294)_(143160 713_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 143,010,294 | 143,160,713 |
nssv3006109 | Remapped | Perfect | NC_000002.11:g.(?_ 143010294)_(143160 713_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 143,010,294 | 143,160,713 |
nssv3006452 | Remapped | Perfect | NC_000002.11:g.(?_ 143010294)_(143160 713_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 143,010,294 | 143,160,713 |
nssv3006097 | Submitted genomic | GPC_000000200.1:g. (?_143221063)_(143 371482_?)del | NCBI34 (hg16) | GPC_000000200.1 | Chr2 | 143,221,063 | 143,371,482 | ||
nssv3006109 | Submitted genomic | GPC_000000200.1:g. (?_143221063)_(143 371482_?)del | NCBI34 (hg16) | GPC_000000200.1 | Chr2 | 143,221,063 | 143,371,482 | ||
nssv3006452 | Submitted genomic | GPC_000000200.1:g. (?_143221063)_(143 371482_?)del | NCBI34 (hg16) | GPC_000000200.1 | Chr2 | 143,221,063 | 143,371,482 |