nsv603866
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:56,167
- Publication(s):Cooper et al. 2011
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: 2353 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 2353 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1050 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv603866 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,319,650 |
| nsv603866 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,029,367 |
| nsv603866 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 79,029,920 | 79,086,086 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1065998 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1065999 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1066000 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1066001 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1066002 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1153798 | copy number loss | HGDP00646 | SNP array | SNP genotyping analysis | nssv1151998, nssv1174895, nssv1173618 |
| nssv1153799 | copy number loss | HGDP00799 | SNP array | SNP genotyping analysis | 5 |
| nssv1153800 | copy number loss | HGDP00830 | SNP array | SNP genotyping analysis | 24 |
| nssv1153801 | copy number loss | HGDP01011 | SNP array | SNP genotyping analysis | 11 |
| nssv1153802 | copy number loss | HGDP01404 | SNP array | SNP genotyping analysis | nssv1152327, nssv1148822 |
| nssv1153803 | copy number loss | NINDS_14 | SNP array | SNP genotyping analysis | 6 |
| nssv1153804 | copy number gain | NINDS_23 | SNP array | SNP genotyping analysis | 8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1065998 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7831965 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,319,650 |
| nssv1065999 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7831965 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,319,650 |
| nssv1066000 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7831965 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,319,650 |
| nssv1066001 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7831965 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,319,650 |
| nssv1066002 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7831965 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,319,650 |
| nssv1153798 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7831965 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,319,650 |
| nssv1153799 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7831965 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,319,650 |
| nssv1153800 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7831965 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,319,650 |
| nssv1153801 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7831965 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,319,650 |
| nssv1153802 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7831965 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,319,650 |
| nssv1153803 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7831965 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,319,650 |
| nssv1153804 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7831965 0_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,319,650 |
| nssv1065998 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7902936 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,029,367 |
| nssv1065999 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7902936 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,029,367 |
| nssv1066000 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7902936 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,029,367 |
| nssv1066001 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7902936 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,029,367 |
| nssv1066002 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7902936 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,029,367 |
| nssv1153798 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7902936 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,029,367 |
| nssv1153799 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7902936 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,029,367 |
| nssv1153800 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7902936 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,029,367 |
| nssv1153801 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7902936 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,029,367 |
| nssv1153802 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7902936 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,029,367 |
| nssv1153803 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7902936 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,029,367 |
| nssv1153804 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7902936 7_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,029,367 |
| nssv1065998 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7908608 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,086,086 | ||
| nssv1065999 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7908608 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,086,086 | ||
| nssv1066000 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7908608 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,086,086 | ||
| nssv1066001 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7908608 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,086,086 | ||
| nssv1066002 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7908608 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,086,086 | ||
| nssv1153798 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7908608 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,086,086 | ||
| nssv1153799 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7908608 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,086,086 | ||
| nssv1153800 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7908608 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,086,086 | ||
| nssv1153801 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7908608 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,086,086 | ||
| nssv1153802 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7908608 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,086,086 | ||
| nssv1153803 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7908608 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,086,086 | ||
| nssv1153804 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7908608 6_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,086,086 |