A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998919



Internal ID18811769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:47205006..47474859hg38UCSC Ensembl
Innerchr4:47207023..47476876hg19UCSC Ensembl
Innerchr4:46901780..47171633hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38269854
hg19269854
hg18269854
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3625128
Samples
Known GenesCOMMD8, GABRB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998919
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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