nsv442474
- Organism: Homo sapiens
- Study:nstd22 (McCarroll et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,812
- 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: 266 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 266 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv442474 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 56,202,579 | 56,211,390 |
| nsv442474 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 56,713,948 | 56,722,759 |
| nsv442474 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000019.8 | Chr19 | 61,405,760 | 61,414,571 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1660507 | copy number loss | NA18521 | SNP array | Probe signal intensity | 1 | 174 |
| nssv1660508 | copy number loss | NA18523 | SNP array | Probe signal intensity | 1 | 151 |
| nssv1660509 | copy number loss | NA18852 | SNP array | Probe signal intensity | 1 | 177 |
| nssv1660510 | copy number loss | NA18854 | SNP array | Probe signal intensity | 1 | 196 |
| nssv1660511 | copy number loss | NA18871 | SNP array | Probe signal intensity | 1 | 174 |
| nssv1660512 | copy number loss | NA18872 | SNP array | Probe signal intensity | 1 | 180 |
| nssv1660513 | copy number loss | NA19119 | SNP array | Probe signal intensity | 1 | 190 |
| nssv1660514 | copy number loss | NA19138 | SNP array | Probe signal intensity | 1 | 154 |
| nssv1660515 | copy number loss | NA19140 | SNP array | Probe signal intensity | 1 | 182 |
| nssv1660516 | copy number loss | NA19204 | SNP array | Probe signal intensity | 1 | 200 |
| nssv1660517 | copy number loss | NA19205 | SNP array | Probe signal intensity | 1 | 180 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1660507 | Remapped | Perfect | NC_000019.10:g.(?_ 56202579)_(5621139 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 56,202,579 | 56,211,390 |
| nssv1660508 | Remapped | Perfect | NC_000019.10:g.(?_ 56202579)_(5621139 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 56,202,579 | 56,211,390 |
| nssv1660509 | Remapped | Perfect | NC_000019.10:g.(?_ 56202579)_(5621139 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 56,202,579 | 56,211,390 |
| nssv1660510 | Remapped | Perfect | NC_000019.10:g.(?_ 56202579)_(5621139 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 56,202,579 | 56,211,390 |
| nssv1660511 | Remapped | Perfect | NC_000019.10:g.(?_ 56202579)_(5621139 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 56,202,579 | 56,211,390 |
| nssv1660512 | Remapped | Perfect | NC_000019.10:g.(?_ 56202579)_(5621139 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 56,202,579 | 56,211,390 |
| nssv1660513 | Remapped | Perfect | NC_000019.10:g.(?_ 56202579)_(5621139 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 56,202,579 | 56,211,390 |
| nssv1660514 | Remapped | Perfect | NC_000019.10:g.(?_ 56202579)_(5621139 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 56,202,579 | 56,211,390 |
| nssv1660515 | Remapped | Perfect | NC_000019.10:g.(?_ 56202579)_(5621139 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 56,202,579 | 56,211,390 |
| nssv1660516 | Remapped | Perfect | NC_000019.10:g.(?_ 56202579)_(5621139 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 56,202,579 | 56,211,390 |
| nssv1660517 | Remapped | Perfect | NC_000019.10:g.(?_ 56202579)_(5621139 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 56,202,579 | 56,211,390 |
| nssv1660507 | Remapped | Perfect | NC_000019.9:g.(?_5 6713948)_(56722759 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 56,713,948 | 56,722,759 |
| nssv1660508 | Remapped | Perfect | NC_000019.9:g.(?_5 6713948)_(56722759 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 56,713,948 | 56,722,759 |
| nssv1660509 | Remapped | Perfect | NC_000019.9:g.(?_5 6713948)_(56722759 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 56,713,948 | 56,722,759 |
| nssv1660510 | Remapped | Perfect | NC_000019.9:g.(?_5 6713948)_(56722759 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 56,713,948 | 56,722,759 |
| nssv1660511 | Remapped | Perfect | NC_000019.9:g.(?_5 6713948)_(56722759 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 56,713,948 | 56,722,759 |
| nssv1660512 | Remapped | Perfect | NC_000019.9:g.(?_5 6713948)_(56722759 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 56,713,948 | 56,722,759 |
| nssv1660513 | Remapped | Perfect | NC_000019.9:g.(?_5 6713948)_(56722759 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 56,713,948 | 56,722,759 |
| nssv1660514 | Remapped | Perfect | NC_000019.9:g.(?_5 6713948)_(56722759 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 56,713,948 | 56,722,759 |
| nssv1660515 | Remapped | Perfect | NC_000019.9:g.(?_5 6713948)_(56722759 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 56,713,948 | 56,722,759 |
| nssv1660516 | Remapped | Perfect | NC_000019.9:g.(?_5 6713948)_(56722759 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 56,713,948 | 56,722,759 |
| nssv1660517 | Remapped | Perfect | NC_000019.9:g.(?_5 6713948)_(56722759 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 56,713,948 | 56,722,759 |
| nssv1660507 | Submitted genomic | NC_000019.8:g.(?_6 1405760)_(61414571 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 61,405,760 | 61,414,571 | ||
| nssv1660508 | Submitted genomic | NC_000019.8:g.(?_6 1405760)_(61414571 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 61,405,760 | 61,414,571 | ||
| nssv1660509 | Submitted genomic | NC_000019.8:g.(?_6 1405760)_(61414571 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 61,405,760 | 61,414,571 | ||
| nssv1660510 | Submitted genomic | NC_000019.8:g.(?_6 1405760)_(61414571 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 61,405,760 | 61,414,571 | ||
| nssv1660511 | Submitted genomic | NC_000019.8:g.(?_6 1405760)_(61414571 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 61,405,760 | 61,414,571 | ||
| nssv1660512 | Submitted genomic | NC_000019.8:g.(?_6 1405760)_(61414571 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 61,405,760 | 61,414,571 | ||
| nssv1660513 | Submitted genomic | NC_000019.8:g.(?_6 1405760)_(61414571 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 61,405,760 | 61,414,571 | ||
| nssv1660514 | Submitted genomic | NC_000019.8:g.(?_6 1405760)_(61414571 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 61,405,760 | 61,414,571 | ||
| nssv1660515 | Submitted genomic | NC_000019.8:g.(?_6 1405760)_(61414571 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 61,405,760 | 61,414,571 | ||
| nssv1660516 | Submitted genomic | NC_000019.8:g.(?_6 1405760)_(61414571 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 61,405,760 | 61,414,571 | ||
| nssv1660517 | Submitted genomic | NC_000019.8:g.(?_6 1405760)_(61414571 _?)del | NCBI35 (hg17) | NC_000019.8 | Chr19 | 61,405,760 | 61,414,571 |