A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216742



Internal ID20783782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:161271072..161393666hg38UCSC Ensembl
chr6:161692104..161814698hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38122595
hg19122595
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6604466
Supporting Variants
Samples
Known GenesAGPAT4, PARK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216742
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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