A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595605



Internal ID16383014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:142516066..142617026hg38UCSC Ensembl
Innerchr4:143437219..143538179hg19UCSC Ensembl
Innerchr4:143656669..143757629hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38100961
hg19100961
hg18100961
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152829
SamplesHGDP00597
Known GenesINPP4B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595605
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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