A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3531023



Internal ID18482618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:52773715..52861657hg38UCSC Ensembl
Innerchr14:53240433..53328375hg19UCSC Ensembl
Innerchr14:52310183..52398125hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3887943
hg1987943
hg1887943
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1050582
Supporting Variants
Samples
Known GenesFERMT2, GNPNAT1, STYX
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3531023
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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