A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17518763



Internal ID21843122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190929125..190929125hg38UCSC Ensembl
chr2:191793851..191793851hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6042375
Supporting Variants
Samples
Known GenesGLS
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17518763
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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