A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6043762



Internal ID21953056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58701262..58701328hg38UCSC Ensembl
chr20:57276318..57276384hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17626839
Samples
Known GenesNPEPL1, STX16-NPEPL1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6043762
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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