A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457881



Internal ID15171260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:66412731..66435948hg38UCSC Ensembl
Innerchr17:64408849..64432066hg19UCSC Ensembl
Innerchr17:61839311..61862528hg18UCSC Ensembl
Innerchr17:61839311..61862528hg17UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3823218
hg1923218
hg1823218
hg1723218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534981
SamplesHGDP00700
Known GenesPRKCA
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)nsv457881
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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