A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17523239



Internal ID21847598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118373661..118373661hg38UCSC Ensembl
chr2:119131237..119131237hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6041296
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17523239
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer