A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18170346



Internal ID20737386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:72815435..72815783hg38UCSC Ensembl
chr8:73727670..73728018hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6428552
Supporting Variants
Samples
Known GenesKCNB2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18170346
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00206


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