A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997413



Internal ID18810263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:37573076..37766187hg38UCSC Ensembl
Innerchr4:37574698..37767809hg19UCSC Ensembl
Innerchr4:37251093..37444204hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38193112
hg19193112
hg18193112
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3739350
Samples
Known GenesC4orf19, RELL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997413
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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