A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209077



Internal ID20776117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:242049101..242149100hg38UCSC Ensembl
chr2:242991252..243091251hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38100000
hg19100000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6348490
Supporting Variants
Samples
Known GenesLOC728323
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209077
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00044


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