A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594652



Internal ID16035375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70984554..71115727hg38UCSC Ensembl
Innerchr4:71850271..71981444hg19UCSC Ensembl
Innerchr4:72069135..72200308hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38131174
hg19131174
hg18131174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1002290
Samples
Known GenesDCK, MOB1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594652
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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