A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6354030



Internal ID21011583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197892413..197893744hg38UCSC Ensembl
chr2:198757137..198758468hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381332
hg191332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18084248
Samples
Known GenesPLCL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6354030
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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