A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17691848



Internal ID115514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75759713..75760447hg38UCSC Ensembl
chr13:76333849..76334583hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38735
hg19735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505834
Supporting Variants
Samples
Known GenesLMO7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17691848
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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