A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967423



Internal ID22742358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159270856..159270856hg38UCSC Ensembl
chr5:158697864..158697864hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17427264
Samples
Known GenesUBLCP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967423
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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