A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053810



Internal ID18796341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:77521528..77681977hg38UCSC Ensembl
Innerchr14:77987871..78148320hg19UCSC Ensembl
Innerchr14:77057624..77218073hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38160450
hg19160450
hg18160450
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3713530
Samples
Known GenesALKBH1, SPTLC2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053810
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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