A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3531205



Internal ID18482800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:75813178..75894713hg38UCSC Ensembl
Innerchr14:76279521..76361056hg19UCSC Ensembl
Innerchr14:75349274..75430809hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3881536
hg1981536
hg1881536
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1039873
Supporting Variants
Samples
Known GenesBCYRN1, TTLL5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3531205
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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