nsv429679
- 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:433,597
- 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: 2687 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 1913 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 2687 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 964 SVs from 32 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 |
---|---|---|---|---|---|---|---|---|---|
nsv429679 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 15,724,284 | 16,157,880 |
nsv429679 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,382,295 | 1,815,809 |
nsv429679 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 15,818,141 | 16,251,737 |
nsv429679 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 15,725,642 | 16,159,238 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
---|---|---|---|---|---|---|
nssv459465 | copy number loss | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv459465 | Remapped | Good | NT_187607.1:g.(?_1 382295)_(1815809_? )del | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,382,295 | 1,815,809 |
nssv459465 | Remapped | Perfect | NC_000016.10:g.(?_ 15724284)_(1615788 0_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,724,284 | 16,157,880 |
nssv459465 | Remapped | Perfect | NC_000016.9:g.(?_1 5818141)_(16251737 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 15,818,141 | 16,251,737 |
nssv459465 | Submitted genomic | NC_000016.8:g.(?_1 5725642)_(16159238 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 15,725,642 | 16,159,238 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
---|---|---|---|---|---|---|
nssv459465 | NCBI36: NC_000016.8:g.(?_15725642)_(16159238_?)del | copy number loss | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |