A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv828201



Internal ID16122157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:55412967..55561097hg38UCSC Ensembl
Innerchr14:55879685..56027815hg19UCSC Ensembl
Innerchr14:54949438..55097568hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38148131
hg19148131
hg18148131
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv564874
Supporting Variants
Samples
Known GenesTBPL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv828201
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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