A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212470



Internal ID20779510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115887234..116116023hg38UCSC Ensembl
chr5:115222931..115451720hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38228790
hg19228790
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6408586
Supporting Variants
Samples
Known GenesAP3S1, AQPEP, ARL14EPL, COMMD10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212470
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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