A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5990270



Internal ID21899613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73868623..73906188hg38UCSC Ensembl
chr2:74095750..74133315hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3837566
hg1937566
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17520129
Samples
Known GenesACTG2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5990270
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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