A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462814



Internal ID15522879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31340853..31359557hg38UCSC Ensembl
Innerchr6:31308630..31327334hg19UCSC Ensembl
Innerchr6:31416609..31435313hg18UCSC Ensembl
Innerchr6:31416609..31435313hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3818705
hg1918705
hg1818705
hg1718705
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538901
SamplesHGDP00491
Known GenesHLA-B, MIR6891
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)nsv462814
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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