A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000337



Internal ID18742868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:47491890..47900002hg38UCSC Ensembl
Innerchr4:47493907..47902019hg19UCSC Ensembl
Innerchr4:47188664..47596776hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38408113
hg19408113
hg18408113
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5202n100
Supporting Variantsnssv3625131
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)nsv1000337
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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