A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5937404



Internal ID22712771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48914805..48915431hg38UCSC Ensembl
chr17:46992167..46992793hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38627
hg19627
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380789
Samples
Known GenesUBE2Z
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5937404
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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