A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595612



Internal ID16383021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144000454..144088715hg38UCSC Ensembl
Innerchr4:144921607..145009868hg19UCSC Ensembl
Innerchr4:145141057..145229318hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3888262
hg1988262
hg1888262
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1008563
Samples
Known GenesGYPB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595612
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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