A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17556573



Internal ID21880928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72330583..72330583hg38UCSC Ensembl
chr5:71626410..71626410hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6063349
Supporting Variants
Samples
Known GenesPTCD2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17556573
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