nsv949353
- Organism: Homo sapiens
- Study:nstd85 (vanSilfhout et al. 2013)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:50,547
- Publication(s):Vulto-van Silfhout et al. 2013
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: 538 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 540 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 63 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv949353 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 38,642,235 | 38,692,781 |
| nsv949353 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 38,501,488 | 38,552,035 |
| nsv949353 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000023.8 | ChrX | 38,257,705 | 38,308,252 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv2767475 | copy number gain | SNP array | SNP genotyping analysis | 3 |
| nssv2767811 | copy number gain | SNP array | SNP genotyping analysis | 4 |
| nssv2768205 | copy number gain | SNP array | SNP genotyping analysis | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2767475 | Remapped | Good | NC_000023.11:g.(?_ 38642235)_(3869278 1_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 38,642,235 | 38,692,781 |
| nssv2767811 | Remapped | Good | NC_000023.11:g.(?_ 38642235)_(3869278 1_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 38,642,235 | 38,692,781 |
| nssv2768205 | Remapped | Good | NC_000023.11:g.(?_ 38642235)_(3869278 1_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 38,642,235 | 38,692,781 |
| nssv2767475 | Remapped | Perfect | NC_000023.10:g.(?_ 38501488)_(3855203 5_?)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 38,501,488 | 38,552,035 |
| nssv2767811 | Remapped | Perfect | NC_000023.10:g.(?_ 38501488)_(3855203 5_?)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 38,501,488 | 38,552,035 |
| nssv2768205 | Remapped | Perfect | NC_000023.10:g.(?_ 38501488)_(3855203 5_?)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 38,501,488 | 38,552,035 |
| nssv2767475 | Submitted genomic | NC_000023.8:g.(?_3 8257705)_(38308252 _?)dup | NCBI35 (hg17) | NC_000023.8 | ChrX | 38,257,705 | 38,308,252 | ||
| nssv2767811 | Submitted genomic | NC_000023.8:g.(?_3 8257705)_(38308252 _?)dup | NCBI35 (hg17) | NC_000023.8 | ChrX | 38,257,705 | 38,308,252 | ||
| nssv2768205 | Submitted genomic | NC_000023.8:g.(?_3 8257705)_(38308252 _?)dup | NCBI35 (hg17) | NC_000023.8 | ChrX | 38,257,705 | 38,308,252 |