A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347841



Internal ID21005394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208402201..208409100hg38UCSC Ensembl
chr2:209266926..209273825hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg386900
hg196900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208114
Samples
Known GenesPTH2R
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347841
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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