A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6358018



Internal ID21015571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184247413..184256823hg38UCSC Ensembl
chr3:183965201..183974611hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg389411
hg199411
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18212165
Samples
Known GenesALG3, ECE2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6358018
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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