A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594329



Internal ID16381738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:61550875..61612512hg38UCSC Ensembl
Innerchr4:62416593..62478230hg19UCSC Ensembl
Innerchr4:62099188..62160825hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3861638
hg1961638
hg1861638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1000254
Samples
Known GenesLPHN3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594329
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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