A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6372941



Internal ID21030494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57063996..57067747hg38UCSC Ensembl
chr3:57098024..57101775hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg383752
hg193752
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18212273
Samples
Known GenesARHGEF3, SPATA12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6372941
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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