A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5965812



Internal ID22740747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49703166..49706196hg38UCSC Ensembl
chr20:48319703..48322733hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg383031
hg193031
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17408665
Samples
Known GenesB4GALT5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5965812
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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