A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6342583



Internal ID21000136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106174659..106809550hg38UCSC Ensembl
chr2:106791115..107426006hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg38634892
hg19634892
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205820
Samples
Known GenesPLGLA, RGPD3, ST6GAL2, UXS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6342583
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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