A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3494947



Internal ID18735902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235210731..235587805hg38UCSC Ensembl
Innerchr1:235374046..235751105hg19UCSC Ensembl
Innerchr1:233440669..233817728hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38377075
hg19377060
hg18377060
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013571
Supporting Variants
Samples
Known GenesARID4B, B3GALNT2, GGPS1, GNG4, TBCE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3494947
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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