A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18188047



Internal ID20755087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76452101..76453600hg38UCSC Ensembl
chr17:74448183..74449682hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6531718
Supporting Variants
Samples
Known GenesAANAT, UBE2O
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18188047
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00011


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