A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6350468



Internal ID21008021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43486607..43783783hg38UCSC Ensembl
chr2:43713746..44010922hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38297177
hg19297177
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209776
Samples
Known GenesDYNC2LI1, LOC728819, PLEKHH2, THADA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6350468
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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