A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18198881



Internal ID20765921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45332401..45401000hg38UCSC Ensembl
chr19:45835659..45904258hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3868600
hg1968600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6519796
Supporting Variants
Samples
Known GenesERCC2, KLC3, PPP1R13L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18198881
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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