A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17529300



Internal ID21853657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202892244..202892244hg38UCSC Ensembl
chr2:203756967..203756967hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6056688
Supporting Variants
Samples
Known GenesWDR12
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17529300
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