A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347787



Internal ID21005340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28619780..28621911hg38UCSC Ensembl
chr2:28842647..28844778hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg382132
hg192132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18088125
Samples
Known GenesPLB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347787
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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