A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17609366



Internal ID21801413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131367440..131367440hg38UCSC Ensembl
chr12:131851985..131851985hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6083525
Supporting Variants
Samples
Known GenesLOC338797
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17609366
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