nsv1194759
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:440,064
- Publication(s):Polyak et al. 2015
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: 2168 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 2173 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 817 SVs from 31 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1194759 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 247,682,930 | 248,122,993 |
| nsv1194759 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 247,846,232 | 248,286,295 |
| nsv1194759 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 245,912,855 | 246,352,918 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7460157 | copy number gain | 18725 | Oligo aCGH | Probe signal intensity | nssv7475502 |
| nssv7461402 | copy number gain | 26107 | Oligo aCGH | Probe signal intensity | nssv7472288, nssv7466138 |
| nssv7466682 | copy number gain | 15324 | Oligo aCGH | Probe signal intensity | nssv7460251 |
| nssv7474378 | copy number gain | 30581 | Oligo aCGH | Probe signal intensity | nssv7469551, nssv7461743 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7460157 | Remapped | Perfect | NC_000001.11:g.(?_ 247682930)_(248122 993_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 247,682,930 | 248,122,993 |
| nssv7461402 | Remapped | Perfect | NC_000001.11:g.(?_ 247682930)_(248122 993_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 247,682,930 | 248,122,993 |
| nssv7466682 | Remapped | Perfect | NC_000001.11:g.(?_ 247682930)_(248122 993_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 247,682,930 | 248,122,993 |
| nssv7474378 | Remapped | Perfect | NC_000001.11:g.(?_ 247682930)_(248122 993_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 247,682,930 | 248,122,993 |
| nssv7460157 | Remapped | Perfect | NC_000001.10:g.(?_ 247846232)_(248286 295_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 247,846,232 | 248,286,295 |
| nssv7461402 | Remapped | Perfect | NC_000001.10:g.(?_ 247846232)_(248286 295_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 247,846,232 | 248,286,295 |
| nssv7466682 | Remapped | Perfect | NC_000001.10:g.(?_ 247846232)_(248286 295_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 247,846,232 | 248,286,295 |
| nssv7474378 | Remapped | Perfect | NC_000001.10:g.(?_ 247846232)_(248286 295_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 247,846,232 | 248,286,295 |
| nssv7460157 | Submitted genomic | NC_000001.9:g.(?_2 45912855)_(2463529 18_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 245,912,855 | 246,352,918 | ||
| nssv7461402 | Submitted genomic | NC_000001.9:g.(?_2 45912855)_(2463529 18_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 245,912,855 | 246,352,918 | ||
| nssv7466682 | Submitted genomic | NC_000001.9:g.(?_2 45912855)_(2463529 18_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 245,912,855 | 246,352,918 | ||
| nssv7474378 | Submitted genomic | NC_000001.9:g.(?_2 45912855)_(2463529 18_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 245,912,855 | 246,352,918 |