nsv1189566
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:53,412
- 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: 1030 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 255 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 1030 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 383 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1189566 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 554,158 | 607,569 |
| nsv1189566 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187550.1 | Chr5|NT_18 7550.1 | 19,328 | 72,660 |
| nsv1189566 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 554,273 | 607,684 |
| nsv1189566 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 607,273 | 660,684 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7463702 | copy number gain | 19023 | Oligo aCGH | Probe signal intensity | nssv7459102 |
| nssv7474965 | copy number gain | 15462 | Oligo aCGH | Probe signal intensity | nssv7473279 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7463702 | Remapped | Good | NT_187550.1:g.(?_1 9328)_(72660_?)dup | GRCh38.p12 | Second Pass | NT_187550.1 | Chr5|NT_18 7550.1 | 19,328 | 72,660 |
| nssv7474965 | Remapped | Good | NT_187550.1:g.(?_1 9328)_(72660_?)dup | GRCh38.p12 | Second Pass | NT_187550.1 | Chr5|NT_18 7550.1 | 19,328 | 72,660 |
| nssv7463702 | Remapped | Perfect | NC_000005.10:g.(?_ 554158)_(607569_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 554,158 | 607,569 |
| nssv7474965 | Remapped | Perfect | NC_000005.10:g.(?_ 554158)_(607569_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 554,158 | 607,569 |
| nssv7463702 | Remapped | Perfect | NC_000005.9:g.(?_5 54273)_(607684_?)d up | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 554,273 | 607,684 |
| nssv7474965 | Remapped | Perfect | NC_000005.9:g.(?_5 54273)_(607684_?)d up | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 554,273 | 607,684 |
| nssv7463702 | Submitted genomic | NC_000005.8:g.(?_6 07273)_(660684_?)d up | NCBI36 (hg18) | NC_000005.8 | Chr5 | 607,273 | 660,684 | ||
| nssv7474965 | Submitted genomic | NC_000005.8:g.(?_6 07273)_(660684_?)d up | NCBI36 (hg18) | NC_000005.8 | Chr5 | 607,273 | 660,684 |