A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17530731



Internal ID21855087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30239771..30240135hg38UCSC Ensembl
chr2:30462637..30463001hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5989105
Supporting Variants
Samples
Known GenesLBH
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17530731
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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