nsv442504
- Organism: Homo sapiens
- Study:nstd22 (McCarroll et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,155
- 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: 762 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 764 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 102 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv442504 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 22,032,040 | 22,037,194 |
| nsv442504 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 22,386,438 | 22,391,593 |
| nsv442504 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000022.8 | Chr22 | 20,710,992 | 20,716,147 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1660644 | copy number gain | NA18572 | SNP array | Probe signal intensity | 3 | 150 |
| nssv1660645 | copy number gain | NA18990 | SNP array | Probe signal intensity | 3 | 157 |
| nssv1660646 | copy number loss | NA12005 | SNP array | Probe signal intensity | 1 | 134 |
| nssv1660647 | copy number loss | NA12707 | SNP array | Probe signal intensity | 1 | 162 |
| nssv1660648 | copy number loss | NA12878 | SNP array | Probe signal intensity | 1 | 162 |
| nssv1660649 | copy number loss | NA18523 | SNP array | Probe signal intensity | 1 | 151 |
| nssv1660650 | copy number loss | NA19204 | SNP array | Probe signal intensity | 1 | 200 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1660644 | Remapped | Good | NC_000022.11:g.(?_ 22032040)_(2203719 4_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,032,040 | 22,037,194 |
| nssv1660645 | Remapped | Good | NC_000022.11:g.(?_ 22032040)_(2203719 4_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,032,040 | 22,037,194 |
| nssv1660646 | Remapped | Good | NC_000022.11:g.(?_ 22032040)_(2203719 4_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,032,040 | 22,037,194 |
| nssv1660647 | Remapped | Good | NC_000022.11:g.(?_ 22032040)_(2203719 4_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,032,040 | 22,037,194 |
| nssv1660648 | Remapped | Good | NC_000022.11:g.(?_ 22032040)_(2203719 4_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,032,040 | 22,037,194 |
| nssv1660649 | Remapped | Good | NC_000022.11:g.(?_ 22032040)_(2203719 4_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,032,040 | 22,037,194 |
| nssv1660650 | Remapped | Good | NC_000022.11:g.(?_ 22032040)_(2203719 4_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,032,040 | 22,037,194 |
| nssv1660644 | Remapped | Perfect | NC_000022.10:g.(?_ 22386438)_(2239159 3_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 22,386,438 | 22,391,593 |
| nssv1660645 | Remapped | Perfect | NC_000022.10:g.(?_ 22386438)_(2239159 3_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 22,386,438 | 22,391,593 |
| nssv1660646 | Remapped | Perfect | NC_000022.10:g.(?_ 22386438)_(2239159 3_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 22,386,438 | 22,391,593 |
| nssv1660647 | Remapped | Perfect | NC_000022.10:g.(?_ 22386438)_(2239159 3_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 22,386,438 | 22,391,593 |
| nssv1660648 | Remapped | Perfect | NC_000022.10:g.(?_ 22386438)_(2239159 3_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 22,386,438 | 22,391,593 |
| nssv1660649 | Remapped | Perfect | NC_000022.10:g.(?_ 22386438)_(2239159 3_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 22,386,438 | 22,391,593 |
| nssv1660650 | Remapped | Perfect | NC_000022.10:g.(?_ 22386438)_(2239159 3_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 22,386,438 | 22,391,593 |
| nssv1660644 | Submitted genomic | NC_000022.8:g.(?_2 0710992)_(20716147 _?)dup | NCBI35 (hg17) | NC_000022.8 | Chr22 | 20,710,992 | 20,716,147 | ||
| nssv1660645 | Submitted genomic | NC_000022.8:g.(?_2 0710992)_(20716147 _?)dup | NCBI35 (hg17) | NC_000022.8 | Chr22 | 20,710,992 | 20,716,147 | ||
| nssv1660646 | Submitted genomic | NC_000022.8:g.(?_2 0710992)_(20716147 _?)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 20,710,992 | 20,716,147 | ||
| nssv1660647 | Submitted genomic | NC_000022.8:g.(?_2 0710992)_(20716147 _?)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 20,710,992 | 20,716,147 | ||
| nssv1660648 | Submitted genomic | NC_000022.8:g.(?_2 0710992)_(20716147 _?)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 20,710,992 | 20,716,147 | ||
| nssv1660649 | Submitted genomic | NC_000022.8:g.(?_2 0710992)_(20716147 _?)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 20,710,992 | 20,716,147 | ||
| nssv1660650 | Submitted genomic | NC_000022.8:g.(?_2 0710992)_(20716147 _?)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 20,710,992 | 20,716,147 |