A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6497719



Internal ID20870927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18206374..18233836hg38UCSC Ensembl
chr17:18109688..18137150hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3827463
hg1927463
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178268
Samples
Known GenesALKBH5, LLGL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6497719
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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