A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047590



Internal ID18790121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100558085..100725766hg38UCSC Ensembl
Innerchr14:101024422..101192103hg19UCSC Ensembl
Innerchr14:100094175..100261856hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38167682
hg19167682
hg18167682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3533448
Samples
Known GenesBEGAIN, LINC00523
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047590
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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