A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050615



Internal ID18793146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:70487432..70546518hg38UCSC Ensembl
Innerchr14:70954149..71013235hg19UCSC Ensembl
Innerchr14:70023902..70082988hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3859087
hg1959087
hg1859087
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531123, nssv3531122, nssv3531121
Samples
Known GenesADAM20
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050615
Frequency
Sample Size29084
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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