A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6047369



Internal ID21956603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17474005..17474066hg38UCSC Ensembl
chr20:17454650..17454711hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17634576
Samples
Known GenesPCSK2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6047369
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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