A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539179



Internal ID15511099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:72660011..72697166hg38UCSC Ensembl
Innerchr6:73369739..73406890hg19UCSC Ensembl
Innerchr6:73426460..73463611hg18UCSC Ensembl
Innerchr6:73426460..73463611hg17UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3837156
hg1937152
hg1837152
hg1737152
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv463152
Supporting Variants
SamplesHGDP01352
Known GenesKCNQ5
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)nssv539179
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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