A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178217



Internal ID20745257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:64658001..64661700hg38UCSC Ensembl
chr17:62654119..62657818hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6524969
Supporting Variants
Samples
Known GenesSMURF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178217
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00097


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