A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3531058



Internal ID18482653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63308319..63386534hg38UCSC Ensembl
Innerchr14:63775037..63853252hg19UCSC Ensembl
Innerchr14:62844790..62923005hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3878216
hg1978216
hg1878216
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1049419
Supporting Variants
Samples
Known GenesGPHB5, PPP2R5E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3531058
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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