nsv819616
- Organism: Homo sapiens
- Study:nstd43 (Kim et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:19,812
- Publication(s):Kim et al. 2009
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: 568 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 765 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 429 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 527 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv819616 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 482,154 | 501,965 |
| nsv819616 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000008.10 | Chr8 | 2,246,944 | 2,266,755 |
| nsv819616 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 281,555 | 301,366 |
| nsv819616 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 2,234,351 | 2,254,162 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1418681 | copy number gain | SAMN00002681 | Oligo aCGH | Probe signal intensity | 1,333 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1418681 | Remapped | Perfect | NT_187576.1:g.(?_4 82154)_(501965_?)d up | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 482,154 | 501,965 |
| nssv1418681 | Remapped | Perfect | NW_003571042.1:g.( ?_281555)_(301366_ ?)dup | GRCh37.p13 | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 281,555 | 301,366 |
| nssv1418681 | Remapped | Perfect | NC_000008.10:g.(?_ 2246944)_(2266755_ ?)dup | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 2,246,944 | 2,266,755 |
| nssv1418681 | Submitted genomic | NC_000008.9:g.(?_2 234351)_(2254162_? )dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 2,234,351 | 2,254,162 |