A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17611730



Internal ID21803777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100479994..100479994hg38UCSC Ensembl
chr13:101132248..101132248hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6089361
Supporting Variants
Samples
Known GenesPCCA, PCCA-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17611730
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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