A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564162



Internal ID16351571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:29865761..29933556hg38UCSC Ensembl
Innerchr14:30334967..30402762hg19UCSC Ensembl
Innerchr14:29404718..29472513hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3867796
hg1967796
hg1867796
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148940
SamplesNINDS_123
Known GenesPRKD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564162
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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