A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343480



Internal ID21001033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202645300..202646172hg38UCSC Ensembl
chr2:203510023..203510895hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38873
hg19873
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18208313
Samples
Known GenesFAM117B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343480
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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