A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6499351



Internal ID20872570
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 StatusM
Merged Variants
Supporting Variantsnssv18186142
Samples
Known GenesNUP88
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6499351
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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