A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048127



Internal ID21957360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46543201..46543314hg38UCSC Ensembl
chr20:45171840..45171953hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17622996
Samples
Known GenesOCSTAMP
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048127
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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