A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212656



Internal ID20779696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:105092101..105350100hg38UCSC Ensembl
chr5:104427802..104685801hg19UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38258000
hg19258000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6407252
Supporting Variants
Samples
Known GenesRAB9BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212656
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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