A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002318



Internal ID18744850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12269..65857hg38UCSC Ensembl
Innerchr4:12269..65749hg19UCSC Ensembl
Innerchr4:2269..55749hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3853589
hg1953481
hg1853481
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5056n100
Supporting Variantsnssv3619439, nssv3619438
Samples
Known GenesZNF595, ZNF718
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002318
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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