A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18077721



Internal ID20644761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143021701..143024300hg38UCSC Ensembl
chr2:143779270..143781869hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6338953
Supporting Variants
Samples
Known GenesKYNU
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18077721
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00168


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