A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462859



Internal ID15176238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31393647..31482217hg38UCSC Ensembl
Innerchr6:31361424..31449994hg19UCSC Ensembl
Innerchr6:31469403..31557973hg18UCSC Ensembl
Innerchr6:31469403..31557973hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3888571
hg1988571
hg1888571
hg1788571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv747n27
Supporting Variantsnssv538937
SamplesHGDP01223
Known GenesHCG26, HCP5, MICA
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)nsv462859
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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