A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1000543



Internal ID16294499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:62807472..62878182hg38UCSC Ensembl
Innerchr4:63673190..63743900hg19UCSC Ensembl
Innerchr4:63355785..63426495hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3870711
hg1970711
hg1870711
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv594363
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1000543
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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