A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998279



Internal ID18811129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12269..69821hg38UCSC Ensembl
Innerchr4:12269..69713hg19UCSC Ensembl
Innerchr4:2269..59713hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3857553
hg1957445
hg1857445
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5056n100
Supporting Variantsnssv3615147, nssv3615146, nssv3615145
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)nsv998279
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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