A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462892



Internal ID15176271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:33087084..33093172hg38UCSC Ensembl
Innerchr6:33054861..33060949hg19UCSC Ensembl
Innerchr6:33162839..33168927hg18UCSC Ensembl
Innerchr6:33162839..33168927hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg386089
hg196089
hg186089
hg176089
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538962
SamplesHGDP01290
Known GenesHLA-DPB1
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)nsv462892
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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