A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6337782



Internal ID20995335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69265058..69513736hg38UCSC Ensembl
chr2:69492190..69740868hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38248679
hg19248679
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206982
Samples
Known GenesAAK1, GFPT1, NFU1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6337782
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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