A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192881



Internal ID20759921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100479861..100480108hg38UCSC Ensembl
chr13:101132115..101132362hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6494629
Supporting Variants
Samples
Known GenesPCCA, PCCA-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18192881
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0066


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