A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6507505



Internal ID20880797
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 StatusM
Merged Variants
Supporting Variantsnssv18182499
Samples
Known GenesGCSH, PKD1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6507505
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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