A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202044



Internal ID20769085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21990901..22013400hg38UCSC Ensembl
chr1:22317394..22339893hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3822500
hg1922500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333976
Supporting Variants
Samples
Known GenesCELA3A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202044
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0014


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