A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6517355



Internal ID20890716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12806552..12811537hg38UCSC Ensembl
chr18:12806551..12811536hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg384986
hg194986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18039427
Samples
Known GenesPTPN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6517355
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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