A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040081



Internal ID18782612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92499396..92540641hg38UCSC Ensembl
Innerchr14:92965740..93006986hg19UCSC Ensembl
Innerchr14:92035493..92076739hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3841246
hg1941247
hg1841247
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3711381
Samples
Known GenesRIN3, SLC24A4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040081
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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