A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214242



Internal ID20781282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:82238242..82425082hg38UCSC Ensembl
chr5:81534061..81720901hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg38186841
hg19186841
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6408042
Supporting Variants
Samples
Known GenesATG10, ATP6AP1L, RPS23
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214242
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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