A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594201



Internal ID16381610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:51932458..52866278hg38UCSC Ensembl
Innerchr4:52798624..53732445hg19UCSC Ensembl
Innerchr4:52493381..53427202hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38933821
hg19933822
hg18933822
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv998036
Samples
Known GenesDANCR, ERVMER34-1, LOC152578, LRRC66, MIR4449, RASL11B, SGCB, SNORA26, SPATA18, USP46
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594201
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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