nsv438378
- Organism: Homo sapiens
- Study:nstd20 (McCarroll et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI34 (hg16)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,691
- 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: 399 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 399 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv438378 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 195,116,036 | 195,117,726 |
| nsv438378 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 195,980,760 | 195,982,450 |
| nsv438378 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | GPC_000000200.1 | Chr2 | 196,183,303 | 196,184,993 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv471182 | copy number loss | NA18858 | SNP array | SNP genotyping analysis | 13 |
| nssv471183 | copy number loss | NA18854 | SNP array | SNP genotyping analysis | 15 |
| nssv471184 | copy number loss | NA18853 | SNP array | SNP genotyping analysis | 5 |
| nssv471185 | copy number loss | NA18863 | SNP array | SNP genotyping analysis | 16 |
| nssv471186 | copy number loss | NA18914 | SNP array | SNP genotyping analysis | 26 |
| nssv471187 | copy number loss | NA19202 | SNP array | SNP genotyping analysis | 21 |
| nssv471188 | copy number loss | NA19207 | SNP array | SNP genotyping analysis | 15 |
| nssv471189 | copy number loss | NA19140 | SNP array | SNP genotyping analysis | 16 |
| nssv471191 | copy number loss | NA19098 | SNP array | SNP genotyping analysis | 17 |
| nssv471192 | copy number loss | NA19192 | SNP array | SNP genotyping analysis | 11 |
| nssv471193 | copy number loss | NA18542 | SNP array | SNP genotyping analysis | 11 |
| nssv471194 | copy number loss | NA18570 | SNP array | SNP genotyping analysis | 11 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv471182 | Remapped | Perfect | NC_000002.12:g.(?_ 195116036)_(195117 726_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 195,116,036 | 195,117,726 |
| nssv471183 | Remapped | Perfect | NC_000002.12:g.(?_ 195116036)_(195117 726_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 195,116,036 | 195,117,726 |
| nssv471184 | Remapped | Perfect | NC_000002.12:g.(?_ 195116036)_(195117 726_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 195,116,036 | 195,117,726 |
| nssv471185 | Remapped | Perfect | NC_000002.12:g.(?_ 195116036)_(195117 726_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 195,116,036 | 195,117,726 |
| nssv471186 | Remapped | Perfect | NC_000002.12:g.(?_ 195116036)_(195117 726_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 195,116,036 | 195,117,726 |
| nssv471187 | Remapped | Perfect | NC_000002.12:g.(?_ 195116036)_(195117 726_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 195,116,036 | 195,117,726 |
| nssv471188 | Remapped | Perfect | NC_000002.12:g.(?_ 195116036)_(195117 726_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 195,116,036 | 195,117,726 |
| nssv471189 | Remapped | Perfect | NC_000002.12:g.(?_ 195116036)_(195117 726_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 195,116,036 | 195,117,726 |
| nssv471191 | Remapped | Perfect | NC_000002.12:g.(?_ 195116036)_(195117 726_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 195,116,036 | 195,117,726 |
| nssv471192 | Remapped | Perfect | NC_000002.12:g.(?_ 195116036)_(195117 726_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 195,116,036 | 195,117,726 |
| nssv471193 | Remapped | Perfect | NC_000002.12:g.(?_ 195116036)_(195117 726_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 195,116,036 | 195,117,726 |
| nssv471194 | Remapped | Perfect | NC_000002.12:g.(?_ 195116036)_(195117 726_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 195,116,036 | 195,117,726 |
| nssv471182 | Remapped | Perfect | NC_000002.11:g.(?_ 195980760)_(195982 450_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 195,980,760 | 195,982,450 |
| nssv471183 | Remapped | Perfect | NC_000002.11:g.(?_ 195980760)_(195982 450_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 195,980,760 | 195,982,450 |
| nssv471184 | Remapped | Perfect | NC_000002.11:g.(?_ 195980760)_(195982 450_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 195,980,760 | 195,982,450 |
| nssv471185 | Remapped | Perfect | NC_000002.11:g.(?_ 195980760)_(195982 450_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 195,980,760 | 195,982,450 |
| nssv471186 | Remapped | Perfect | NC_000002.11:g.(?_ 195980760)_(195982 450_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 195,980,760 | 195,982,450 |
| nssv471187 | Remapped | Perfect | NC_000002.11:g.(?_ 195980760)_(195982 450_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 195,980,760 | 195,982,450 |
| nssv471188 | Remapped | Perfect | NC_000002.11:g.(?_ 195980760)_(195982 450_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 195,980,760 | 195,982,450 |
| nssv471189 | Remapped | Perfect | NC_000002.11:g.(?_ 195980760)_(195982 450_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 195,980,760 | 195,982,450 |
| nssv471191 | Remapped | Perfect | NC_000002.11:g.(?_ 195980760)_(195982 450_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 195,980,760 | 195,982,450 |
| nssv471192 | Remapped | Perfect | NC_000002.11:g.(?_ 195980760)_(195982 450_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 195,980,760 | 195,982,450 |
| nssv471193 | Remapped | Perfect | NC_000002.11:g.(?_ 195980760)_(195982 450_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 195,980,760 | 195,982,450 |
| nssv471194 | Remapped | Perfect | NC_000002.11:g.(?_ 195980760)_(195982 450_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 195,980,760 | 195,982,450 |
| nssv471182 | Submitted genomic | GPC_000000200.1:g. (?_196183303)_(196 184993_?)del | NCBI34 (hg16) | GPC_000000200.1 | Chr2 | 196,183,303 | 196,184,993 | ||
| nssv471183 | Submitted genomic | GPC_000000200.1:g. (?_196183303)_(196 184993_?)del | NCBI34 (hg16) | GPC_000000200.1 | Chr2 | 196,183,303 | 196,184,993 | ||
| nssv471184 | Submitted genomic | GPC_000000200.1:g. (?_196183303)_(196 184993_?)del | NCBI34 (hg16) | GPC_000000200.1 | Chr2 | 196,183,303 | 196,184,993 | ||
| nssv471185 | Submitted genomic | GPC_000000200.1:g. (?_196183303)_(196 184993_?)del | NCBI34 (hg16) | GPC_000000200.1 | Chr2 | 196,183,303 | 196,184,993 | ||
| nssv471186 | Submitted genomic | GPC_000000200.1:g. (?_196183303)_(196 184993_?)del | NCBI34 (hg16) | GPC_000000200.1 | Chr2 | 196,183,303 | 196,184,993 | ||
| nssv471187 | Submitted genomic | GPC_000000200.1:g. (?_196183303)_(196 184993_?)del | NCBI34 (hg16) | GPC_000000200.1 | Chr2 | 196,183,303 | 196,184,993 | ||
| nssv471188 | Submitted genomic | GPC_000000200.1:g. (?_196183303)_(196 184993_?)del | NCBI34 (hg16) | GPC_000000200.1 | Chr2 | 196,183,303 | 196,184,993 | ||
| nssv471189 | Submitted genomic | GPC_000000200.1:g. (?_196183303)_(196 184993_?)del | NCBI34 (hg16) | GPC_000000200.1 | Chr2 | 196,183,303 | 196,184,993 | ||
| nssv471191 | Submitted genomic | GPC_000000200.1:g. (?_196183303)_(196 184993_?)del | NCBI34 (hg16) | GPC_000000200.1 | Chr2 | 196,183,303 | 196,184,993 | ||
| nssv471192 | Submitted genomic | GPC_000000200.1:g. (?_196183303)_(196 184993_?)del | NCBI34 (hg16) | GPC_000000200.1 | Chr2 | 196,183,303 | 196,184,993 | ||
| nssv471193 | Submitted genomic | GPC_000000200.1:g. (?_196183303)_(196 184993_?)del | NCBI34 (hg16) | GPC_000000200.1 | Chr2 | 196,183,303 | 196,184,993 | ||
| nssv471194 | Submitted genomic | GPC_000000200.1:g. (?_196183303)_(196 184993_?)del | NCBI34 (hg16) | GPC_000000200.1 | Chr2 | 196,183,303 | 196,184,993 |