nsv819596
- 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:28,024
- 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: 226 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 226 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv819596 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 8,960,918 | 8,988,941 |
| nsv819596 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 9,113,514 | 9,141,537 |
| nsv819596 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 9,004,781 | 9,032,804 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1418712 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1418712 | Remapped | Perfect | NC_000012.12:g.(?_ 8960918)_(8988941_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 8,960,918 | 8,988,941 |
| nssv1418712 | Remapped | Perfect | NC_000012.11:g.(?_ 9113514)_(9141537_ ?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 9,113,514 | 9,141,537 |
| nssv1418712 | Submitted genomic | NC_000012.10:g.(?_ 9004781)_(9032804_ ?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 9,004,781 | 9,032,804 |