A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012511



Internal ID18755044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12269..209848hg38UCSC Ensembl
Innerchr4:12269..203637hg19UCSC Ensembl
Innerchr4:2269..193637hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38197580
hg19191369
hg18191369
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5060n100
Supporting Variantsnssv3615221
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)nsv1012511
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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