A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595334



Internal ID16382743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:120701902..120844372hg38UCSC Ensembl
Innerchr4:121623057..121765527hg19UCSC Ensembl
Innerchr4:121842507..121984977hg18UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38142471
hg19142471
hg18142471
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152948
SamplesHGDP01238
Known GenesPRDM5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595334
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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