A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6345436



Internal ID21002989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169484807..169485509hg38UCSC Ensembl
chr2:170341317..170342019hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38703
hg19703
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18207382
Samples
Known GenesBBS5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6345436
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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