A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948706



Internal ID22724169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134376339..134376339hg38UCSC Ensembl
chr5:133712030..133712030hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17429012
Samples
Known GenesUBE2B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948706
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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