A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149789



Internal ID15875558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:66412731..66435948hg38UCSC Ensembl
Innerchr17:64408849..64432066hg19UCSC Ensembl
Innerchr17:61839311..61862528hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3823218
hg1923218
hg1823218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575895
Supporting Variants
SamplesHGDP00700
Known GenesPRKCA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149789
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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