A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538930



Internal ID15161949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31392612..31483699hg38UCSC Ensembl
Innerchr6:31360389..31451476hg19UCSC Ensembl
Innerchr6:31468368..31559455hg18UCSC Ensembl
Innerchr6:31468368..31559455hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3891088
hg1991088
hg1891088
hg1791088
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462848
Supporting Variants
SamplesHGDP00876
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)nssv538930
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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