A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6339417



Internal ID20996970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208005782..208009995hg38UCSC Ensembl
chr2:208870506..208874719hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg384214
hg194214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18082625
Samples
Known GenesPLEKHM3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6339417
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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