A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3531038



Internal ID18482633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:57198718..58129812hg38UCSC Ensembl
Innerchr14:57665436..58596530hg19UCSC Ensembl
Innerchr14:56735189..57666283hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38931095
hg19931095
hg18931095
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1046422
Supporting Variants
Samples
Known GenesAP5M1, C14orf105, C14orf37, EXOC5, NAA30, SLC35F4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3531038
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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