A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18012502



Internal ID20579542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:69918491..69919176hg38UCSC Ensembl
chr13:70492623..70493308hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38686
hg19686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6488682
Supporting Variants
Samples
Known GenesKLHL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18012502
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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