A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6494629



Internal ID21152182
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 StatusM
Merged Variants
Supporting Variantsnssv18192881
Samples
Known GenesPCCA, PCCA-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6494629
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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