nsv438193
- Organism: Homo sapiens
- Study:nstd20 (McCarroll et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI34 (hg16)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,251
- Publication(s):McCarroll 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: 220 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 220 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv438193 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 17,041,861 | 17,051,111 |
| nsv438193 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 17,223,128 | 17,232,378 |
| nsv438193 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | GPC_000000200.1 | Chr2 | 17,207,641 | 17,216,891 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv470119 | copy number loss | NA12812 | SNP array | SNP genotyping analysis | 18 |
| nssv470130 | copy number loss | NA12801 | SNP array | SNP genotyping analysis | 32 |
| nssv470141 | copy number loss | NA12812 | SNP array | SNP genotyping analysis | 18 |
| nssv470152 | copy number loss | NA12801 | SNP array | SNP genotyping analysis | 32 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv470119 | Remapped | Perfect | NC_000002.12:g.(?_ 17041861)_(1705111 1_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,041,861 | 17,051,111 |
| nssv470130 | Remapped | Perfect | NC_000002.12:g.(?_ 17041861)_(1705111 1_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,041,861 | 17,051,111 |
| nssv470141 | Remapped | Perfect | NC_000002.12:g.(?_ 17044638)_(1704624 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,044,638 | 17,046,242 |
| nssv470152 | Remapped | Perfect | NC_000002.12:g.(?_ 17044638)_(1704624 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 17,044,638 | 17,046,242 |
| nssv470119 | Remapped | Perfect | NC_000002.11:g.(?_ 17223128)_(1723237 8_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,223,128 | 17,232,378 |
| nssv470130 | Remapped | Perfect | NC_000002.11:g.(?_ 17223128)_(1723237 8_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,223,128 | 17,232,378 |
| nssv470141 | Remapped | Perfect | NC_000002.11:g.(?_ 17225905)_(1722750 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,225,905 | 17,227,509 |
| nssv470152 | Remapped | Perfect | NC_000002.11:g.(?_ 17225905)_(1722750 9_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 17,225,905 | 17,227,509 |
| nssv470119 | Submitted genomic | GPC_000000200.1:g. (?_17207641)_(1721 6891_?)del | NCBI34 (hg16) | GPC_000000200.1 | Chr2 | 17,207,641 | 17,216,891 | ||
| nssv470130 | Submitted genomic | GPC_000000200.1:g. (?_17207641)_(1721 6891_?)del | NCBI34 (hg16) | GPC_000000200.1 | Chr2 | 17,207,641 | 17,216,891 | ||
| nssv470141 | Submitted genomic | GPC_000000200.1:g. (?_17210418)_(1721 2022_?)del | NCBI34 (hg16) | GPC_000000200.1 | Chr2 | 17,210,418 | 17,212,022 | ||
| nssv470152 | Submitted genomic | GPC_000000200.1:g. (?_17210418)_(1721 2022_?)del | NCBI34 (hg16) | GPC_000000200.1 | Chr2 | 17,210,418 | 17,212,022 |