A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462883



Internal ID15522948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32610275..32684540hg38UCSC Ensembl
Innerchr6:32578052..32652317hg19UCSC Ensembl
Innerchr6:32686030..32760295hg18UCSC Ensembl
Innerchr6:32686030..32760295hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3874266
hg1974266
hg1874266
hg1774266
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv750n27
Supporting Variantsnssv538953
SamplesHGDP00737
Known GenesHLA-DQA1, HLA-DQB1
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)nsv462883
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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