A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944166



Internal ID22719626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62396361..62397824hg38UCSC Ensembl
chr17:60473722..60475185hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381464
hg191464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17372954
Samples
Known GenesEFCAB3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944166
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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