A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207860



Internal ID20774900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113740191..113933199hg38UCSC Ensembl
chr3:113459038..113652046hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38193009
hg19193009
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6363800
Supporting Variants
Samples
Known GenesATP6V1A, GRAMD1C, NAA50
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207860
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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