A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002614



Internal ID19091831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12269..94493hg38UCSC Ensembl
Innerchr4:12269..94380hg19UCSC Ensembl
Innerchr4:2269..84380hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3882225
hg1982112
hg1882112
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5058n100
Supporting Variantsnssv3615195, nssv3615193, nssv3615192, nssv3615194
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)nsv1002614
Frequency
Sample Size11257
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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