A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17387498



Internal ID22445368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29951601..29964538hg38UCSC Ensembl
chr17:28278619..28291556hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3812938
hg1912938
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5945810
Supporting Variants
Samples
Known GenesEFCAB5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17387498
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003


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