A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18013547



Internal ID20580587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:80340801..80341400hg38UCSC Ensembl
chr13:80914936..80915535hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6478419
Supporting Variants
Samples
Known GenesSPRY2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18013547
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.07674


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