A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944110



Internal ID22719569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47304855..47306926hg38UCSC Ensembl
chr17:45382221..45384292hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg382072
hg192072
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382390
Samples
Known GenesITGB3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944110
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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