A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594957



Internal ID16035680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:102806853..102948934hg38UCSC Ensembl
Innerchr4:103728010..103870091hg19UCSC Ensembl
Innerchr4:103947120..104089540hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38142082
hg19142082
hg18142421
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1003603
Samples
Known GenesCISD2, SLC9B1, UBE2D3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594957
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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