A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344263



Internal ID21001816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134442416..134464242hg38UCSC Ensembl
chr2:135199987..135221813hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3821827
hg1921827
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204868
Samples
Known GenesMGAT5, TMEM163
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344263
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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