nsv429565
- Organism: Homo sapiens
- Study:nstd11 (Walter et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:242,134,522
- Publication(s):Walter 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: 608973 SVs from 157 studies. See in: genome view
Overlapping variant regions from other studies: 608197 SVs from 157 studies. See in: genome view
Overlapping variant regions from other studies: 181243 SVs from 45 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv429565 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 12,784 | 242,147,305 |
| nsv429565 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 12,784 | 243,059,659 |
| nsv429565 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 2,784 | 242,738,129 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459351 | copy number gain | SNP array | SNP genotyping analysis | Leukemia, Myeloid, Acute | not provided | Submitter |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv459351 | Remapped | Good | NC_000002.12:g.(?_ 12784)_(242147305_ ?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 12,784 | 242,147,305 |
| nssv459351 | Remapped | Good | NC_000002.11:g.(?_ 12784)_(243059659_ ?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 12,784 | 243,059,659 |
| nssv459351 | Submitted genomic | NC_000002.10:g.(?_ 2784)_(242738129_? )dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 2,784 | 242,738,129 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459351 | NCBI36: NC_000002.10:g.(?_2784)_(242738129_?)dup | copy number gain | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |