A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594756



Internal ID16035479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:85752735..85755954hg38UCSC Ensembl
Innerchr4:86673888..86677107hg19UCSC Ensembl
Innerchr4:86892912..86896131hg18UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg383220
hg193220
hg183220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152940
Samples1780862066_A
Known GenesARHGAP24
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594756
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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