A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2757081



Internal ID17788259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31356775..31361417hg38UCSC Ensembl
Innerchr14:31825981..31830623hg19UCSC Ensembl
Innerchr14:30895732..30900374hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg384643
hg194643
hg184643
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974471
Supporting Variants
SamplesHGDP00665
Known GenesHEATR5A
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2757081
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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