A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6371065



Internal ID21028618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:73032060..73146367hg38UCSC Ensembl
chr3:73081211..73195518hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38114308
hg19114308
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208710
Samples
Known GenesEBLN2, PPP4R2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6371065
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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