A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6540206



Internal ID20913498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58694924..58695489hg38UCSC Ensembl
chr20:57269980..57270545hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38566
hg19566
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203340
Samples
Known GenesNPEPL1, STX16-NPEPL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6540206
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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