A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002693



Internal ID18745225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12269..75118hg38UCSC Ensembl
Innerchr4:12269..75011hg19UCSC Ensembl
Innerchr4:2269..65011hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3862850
hg1962743
hg1862743
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5056n100
Supporting Variantsnssv3615155, nssv3615158, nssv3615156, nssv3615154, nssv3615157, nssv3615159
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)nsv1002693
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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