A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6336338



Internal ID20993891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28624095..28626905hg38UCSC Ensembl
chr2:28846962..28849772hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg382811
hg192811
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18088126
Samples
Known GenesPLB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6336338
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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