A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5395404



Internal ID174827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:24310293..24310336hg38UCSC Ensembl
chr6:24310521..24310564hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16980151
Samples
Known GenesDCDC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5395404
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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