A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594933



Internal ID16382342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:97648108..97785895hg38UCSC Ensembl
Innerchr4:98569259..98707046hg19UCSC Ensembl
Innerchr4:98788282..98926069hg18UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38137788
hg19137788
hg18137788
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1003431
Samples
Known GenesSTPG2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594933
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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