A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17372954



Internal ID22598623
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 StatusS
Merged Variantsnsv5944166
Supporting Variants
Samples
Known GenesEFCAB3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17372954
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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