A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050075



Internal ID18792606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:96538614..96812883hg38UCSC Ensembl
Innerchr14:97004951..97279220hg19UCSC Ensembl
Innerchr14:96074704..96348973hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38274270
hg19274270
hg18274270
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1964n100
Supporting Variantsnssv3532632
Samples
Known GenesPAPOLA, VRK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050075
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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