A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18186142



Internal ID20753182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5395993..5417990hg38UCSC Ensembl
chr17:5299313..5321310hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3821998
hg1921998
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6499351
Supporting Variants
Samples
Known GenesNUP88
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18186142
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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