A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5990273



Internal ID21899616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74433701..74433788hg38UCSC Ensembl
chr2:74660828..74660915hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17520660
Samples
Known GenesRTKN
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5990273
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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