A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16276377



Internal ID20485595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58694986..58695789hg38UCSC Ensembl
chr20:57270042..57270845hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38804
hg19804
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4742856
Supporting Variants
Samples
Known GenesNPEPL1, STX16-NPEPL1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16276377
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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