A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002683



Internal ID19091900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:77249164..77360177hg38UCSC Ensembl
Innerchr4:78170317..78281331hg19UCSC Ensembl
Innerchr4:78389341..78500355hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38111014
hg19111015
hg18111015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5323n100
Supporting Variantsnssv3633860
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002683
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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