A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177786



Internal ID20744826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5367409..5367892hg38UCSC Ensembl
chr17:5270704..5271187hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38484
hg19484
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6497017
Supporting Variants
Samples
Known GenesRABEP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177786
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00011


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