A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182499



Internal ID20749539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81092542..81125282hg38UCSC Ensembl
chr16:81126147..81158887hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3832741
hg1932741
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6507505
Supporting Variants
Samples
Known GenesGCSH, PKD1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182499
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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