A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594492



Internal ID16381901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:65958192..66083757hg38UCSC Ensembl
Innerchr4:66823910..66949475hg19UCSC Ensembl
Innerchr4:66506505..66632070hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38125566
hg19125566
hg18125566
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1001767
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594492
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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