nsv429614
- 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:35,656
- 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: 164 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 161 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 24 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 41 SVs from 11 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 |
---|---|---|---|---|---|---|---|---|---|
nsv429614 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 118,444,731 | 118,480,386 |
nsv429614 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000011.9 | Chr11 | 118,315,446 | 118,351,101 |
nsv429614 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871072.2 | Chr11|NW_0 03871072.2 | 70,169 | 105,824 |
nsv429614 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 117,820,656 | 117,856,311 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
---|---|---|---|---|---|---|
nssv459400 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv459400 | Remapped | Perfect | NC_000011.10:g.(?_ 118444731)_(118480 386_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 118,444,731 | 118,480,386 |
nssv459400 | Remapped | Perfect | NW_003871072.2:g.( ?_70169)_(105824_? )dup | GRCh37.p13 | First Pass | NW_003871072.2 | Chr11|NW_0 03871072.2 | 70,169 | 105,824 |
nssv459400 | Remapped | Perfect | NC_000011.9:g.(?_1 18315446)_(1183511 01_?)dup | GRCh37.p13 | Second Pass | NC_000011.9 | Chr11 | 118,315,446 | 118,351,101 |
nssv459400 | Submitted genomic | NC_000011.8:g.(?_1 17820656)_(1178563 11_?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 117,820,656 | 117,856,311 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
---|---|---|---|---|---|---|
nssv459400 | NCBI36: NC_000011.8:g.(?_117820656)_(117856311_?)dup | copy number gain | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |