A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18067667



Internal ID20634708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50538177..50549065hg38UCSC Ensembl
chr20:49154714..49165602hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3810889
hg1910889
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6546097
Supporting Variants
Samples
Known GenesPTPN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18067667
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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