A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17523615



Internal ID21847974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210619098..210619098hg38UCSC Ensembl
chr2:211483822..211483822hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38574
hg19574
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6060247
Supporting Variants
Samples
Known GenesCPS1, CPS1-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17523615
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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