A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997471



Internal ID18810321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:47487395..47893206hg38UCSC Ensembl
Innerchr4:47489412..47895223hg19UCSC Ensembl
Innerchr4:47184169..47589980hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38405812
hg19405812
hg18405812
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5202n100
Supporting Variantsnssv3625130
Samples
Known GenesATP10D, CORIN, MIR8053, NFXL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997471
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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