A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6374930



Internal ID21032483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122742201..122751000hg38UCSC Ensembl
chr3:122461048..122469847hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg388800
hg198800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18207951
Samples
Known GenesHSPBAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6374930
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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