A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540110



Internal ID15504410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:165497218..165533284hg38UCSC Ensembl
Innerchr6:165910706..165946772hg19UCSC Ensembl
Innerchr6:165830696..165866762hg18UCSC Ensembl
Innerchr6:165881117..165917183hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3836067
hg1936067
hg1836067
hg1736067
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464137
Supporting Variants
Samples1782681169_A
Known GenesPDE10A
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)nssv540110
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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