A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462673



Internal ID15522738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29721813..29732406hg38UCSC Ensembl
Innerchr6:29689590..29700183hg19UCSC Ensembl
Innerchr6:29797569..29808162hg18UCSC Ensembl
Innerchr6:29797569..29808162hg17UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3810594
hg1910594
hg1810594
hg1710594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538770
SamplesHGDP00891
Known GenesHLA-F, HLA-F-AS1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv462673
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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