A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000691



Internal ID18743222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12269..110761hg38UCSC Ensembl
Innerchr4:12269..110646hg19UCSC Ensembl
Innerchr4:2269..100646hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3898493
hg1998378
hg1898378
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5059n100
Supporting Variantsnssv3615204
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)nsv1000691
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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