nsv442449
- Organism: Homo sapiens
- Study:nstd22 (McCarroll et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,424
- Publication(s):McCarroll et al. 2008
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: 626 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 626 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 19 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv442449 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 69,540,616 | 69,550,039 |
| nsv442449 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 67,207,852 | 67,217,275 |
| nsv442449 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000018.8 | Chr18 | 65,358,832 | 65,368,255 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1660357 | copy number loss | NA06991 | SNP array | Probe signal intensity | 1 | 168 |
| nssv1660358 | copy number loss | NA06993 | SNP array | Probe signal intensity | 1 | 160 |
| nssv1660359 | copy number loss | NA07034 | SNP array | Probe signal intensity | 1 | 143 |
| nssv1660360 | copy number loss | NA07048 | SNP array | Probe signal intensity | 1 | 138 |
| nssv1660361 | copy number loss | NA07345 | SNP array | Probe signal intensity | 1 | 172 |
| nssv1660362 | copy number loss | NA10847 | SNP array | Probe signal intensity | 1 | 150 |
| nssv1660363 | copy number loss | NA11994 | SNP array | Probe signal intensity | 1 | 156 |
| nssv1660364 | copy number loss | NA12146 | SNP array | Probe signal intensity | 0 | 154 |
| nssv1660365 | copy number loss | NA12753 | SNP array | Probe signal intensity | 1 | 168 |
| nssv1660366 | copy number loss | NA12762 | SNP array | Probe signal intensity | 1 | 146 |
| nssv1660367 | copy number loss | NA18562 | SNP array | Probe signal intensity | 1 | 168 |
| nssv1660368 | copy number loss | NA18972 | SNP array | Probe signal intensity | 1 | 164 |
| nssv1660369 | copy number loss | NA18987 | SNP array | Probe signal intensity | 1 | 156 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1660357 | Remapped | Perfect | NC_000018.10:g.(?_ 69540616)_(6955003 9_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,540,616 | 69,550,039 |
| nssv1660358 | Remapped | Perfect | NC_000018.10:g.(?_ 69540616)_(6955003 9_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,540,616 | 69,550,039 |
| nssv1660359 | Remapped | Perfect | NC_000018.10:g.(?_ 69540616)_(6955003 9_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,540,616 | 69,550,039 |
| nssv1660360 | Remapped | Perfect | NC_000018.10:g.(?_ 69540616)_(6955003 9_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,540,616 | 69,550,039 |
| nssv1660361 | Remapped | Perfect | NC_000018.10:g.(?_ 69540616)_(6955003 9_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,540,616 | 69,550,039 |
| nssv1660362 | Remapped | Perfect | NC_000018.10:g.(?_ 69540616)_(6955003 9_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,540,616 | 69,550,039 |
| nssv1660363 | Remapped | Perfect | NC_000018.10:g.(?_ 69540616)_(6955003 9_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,540,616 | 69,550,039 |
| nssv1660364 | Remapped | Perfect | NC_000018.10:g.(?_ 69540616)_(6955003 9_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,540,616 | 69,550,039 |
| nssv1660365 | Remapped | Perfect | NC_000018.10:g.(?_ 69540616)_(6955003 9_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,540,616 | 69,550,039 |
| nssv1660366 | Remapped | Perfect | NC_000018.10:g.(?_ 69540616)_(6955003 9_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,540,616 | 69,550,039 |
| nssv1660367 | Remapped | Perfect | NC_000018.10:g.(?_ 69540616)_(6955003 9_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,540,616 | 69,550,039 |
| nssv1660368 | Remapped | Perfect | NC_000018.10:g.(?_ 69540616)_(6955003 9_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,540,616 | 69,550,039 |
| nssv1660369 | Remapped | Perfect | NC_000018.10:g.(?_ 69540616)_(6955003 9_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,540,616 | 69,550,039 |
| nssv1660357 | Remapped | Perfect | NC_000018.9:g.(?_6 7207852)_(67217275 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 67,207,852 | 67,217,275 |
| nssv1660358 | Remapped | Perfect | NC_000018.9:g.(?_6 7207852)_(67217275 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 67,207,852 | 67,217,275 |
| nssv1660359 | Remapped | Perfect | NC_000018.9:g.(?_6 7207852)_(67217275 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 67,207,852 | 67,217,275 |
| nssv1660360 | Remapped | Perfect | NC_000018.9:g.(?_6 7207852)_(67217275 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 67,207,852 | 67,217,275 |
| nssv1660361 | Remapped | Perfect | NC_000018.9:g.(?_6 7207852)_(67217275 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 67,207,852 | 67,217,275 |
| nssv1660362 | Remapped | Perfect | NC_000018.9:g.(?_6 7207852)_(67217275 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 67,207,852 | 67,217,275 |
| nssv1660363 | Remapped | Perfect | NC_000018.9:g.(?_6 7207852)_(67217275 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 67,207,852 | 67,217,275 |
| nssv1660364 | Remapped | Perfect | NC_000018.9:g.(?_6 7207852)_(67217275 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 67,207,852 | 67,217,275 |
| nssv1660365 | Remapped | Perfect | NC_000018.9:g.(?_6 7207852)_(67217275 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 67,207,852 | 67,217,275 |
| nssv1660366 | Remapped | Perfect | NC_000018.9:g.(?_6 7207852)_(67217275 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 67,207,852 | 67,217,275 |
| nssv1660367 | Remapped | Perfect | NC_000018.9:g.(?_6 7207852)_(67217275 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 67,207,852 | 67,217,275 |
| nssv1660368 | Remapped | Perfect | NC_000018.9:g.(?_6 7207852)_(67217275 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 67,207,852 | 67,217,275 |
| nssv1660369 | Remapped | Perfect | NC_000018.9:g.(?_6 7207852)_(67217275 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 67,207,852 | 67,217,275 |
| nssv1660357 | Submitted genomic | NC_000018.8:g.(?_6 5358832)_(65368255 _?)del | NCBI35 (hg17) | NC_000018.8 | Chr18 | 65,358,832 | 65,368,255 | ||
| nssv1660358 | Submitted genomic | NC_000018.8:g.(?_6 5358832)_(65368255 _?)del | NCBI35 (hg17) | NC_000018.8 | Chr18 | 65,358,832 | 65,368,255 | ||
| nssv1660359 | Submitted genomic | NC_000018.8:g.(?_6 5358832)_(65368255 _?)del | NCBI35 (hg17) | NC_000018.8 | Chr18 | 65,358,832 | 65,368,255 | ||
| nssv1660360 | Submitted genomic | NC_000018.8:g.(?_6 5358832)_(65368255 _?)del | NCBI35 (hg17) | NC_000018.8 | Chr18 | 65,358,832 | 65,368,255 | ||
| nssv1660361 | Submitted genomic | NC_000018.8:g.(?_6 5358832)_(65368255 _?)del | NCBI35 (hg17) | NC_000018.8 | Chr18 | 65,358,832 | 65,368,255 | ||
| nssv1660362 | Submitted genomic | NC_000018.8:g.(?_6 5358832)_(65368255 _?)del | NCBI35 (hg17) | NC_000018.8 | Chr18 | 65,358,832 | 65,368,255 | ||
| nssv1660363 | Submitted genomic | NC_000018.8:g.(?_6 5358832)_(65368255 _?)del | NCBI35 (hg17) | NC_000018.8 | Chr18 | 65,358,832 | 65,368,255 | ||
| nssv1660364 | Submitted genomic | NC_000018.8:g.(?_6 5358832)_(65368255 _?)del | NCBI35 (hg17) | NC_000018.8 | Chr18 | 65,358,832 | 65,368,255 | ||
| nssv1660365 | Submitted genomic | NC_000018.8:g.(?_6 5358832)_(65368255 _?)del | NCBI35 (hg17) | NC_000018.8 | Chr18 | 65,358,832 | 65,368,255 | ||
| nssv1660366 | Submitted genomic | NC_000018.8:g.(?_6 5358832)_(65368255 _?)del | NCBI35 (hg17) | NC_000018.8 | Chr18 | 65,358,832 | 65,368,255 | ||
| nssv1660367 | Submitted genomic | NC_000018.8:g.(?_6 5358832)_(65368255 _?)del | NCBI35 (hg17) | NC_000018.8 | Chr18 | 65,358,832 | 65,368,255 | ||
| nssv1660368 | Submitted genomic | NC_000018.8:g.(?_6 5358832)_(65368255 _?)del | NCBI35 (hg17) | NC_000018.8 | Chr18 | 65,358,832 | 65,368,255 | ||
| nssv1660369 | Submitted genomic | NC_000018.8:g.(?_6 5358832)_(65368255 _?)del | NCBI35 (hg17) | NC_000018.8 | Chr18 | 65,358,832 | 65,368,255 |