A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5955042



Internal ID22730264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73805470..73805470hg38UCSC Ensembl
chr8:74717705..74717705hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17442099
Samples
Known GenesUBE2W
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5955042
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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