A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3530127



Internal ID18481722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:39134831..39183585hg38UCSC Ensembl
Innerchr14:39604035..39652789hg19UCSC Ensembl
Innerchr14:38673786..38722540hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3848755
hg1948755
hg1848755
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1051247
Supporting Variants
Samples
Known GenesGEMIN2, PNN, TRAPPC6B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3530127
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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