A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343320



Internal ID21000873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241462667..241628310hg38UCSC Ensembl
chr2:242402082..242567725hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38165644
hg19165644
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209013
Samples
Known GenesBOK, BOK-AS1, FARP2, STK25, THAP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343320
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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