A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14100205



Internal ID21281516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:58470493..58533858hg38UCSC Ensembl
Innerchr18:56137725..56201090hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3863366
hg1963366
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3116626
Supporting Variants
Samplessample312
Known GenesALPK2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14100205
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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