A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206499



Internal ID20773539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113468001..113722400hg38UCSC Ensembl
chr2:114225578..114479977hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38254400
hg19254400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6344490
Supporting Variants
Samples
Known GenesCBWD2, DDX11L2, FAM138B, FOXD4L1, MIR4782, RABL2A, RPL23AP7, SLC35F5, WASH2P
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206499
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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