A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051247



Internal ID18793778
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 StatusM
Merged Variants
Supporting Variantsnssv3530127
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)nsv1051247
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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