A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6046219



Internal ID21955464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:10378617..10500000hg38UCSC Ensembl
chr20:10359265..10480648hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38121384
hg19121384
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17631350
Samples
Known GenesMKKS, SLX4IP
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6046219
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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