A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6345189



Internal ID21002742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20310001..20311200hg38UCSC Ensembl
chr2:20509762..20510961hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18084364
Samples
Known GenesPUM2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6345189
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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