A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17595588



Internal ID21787631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:77332349..77332349hg38UCSC Ensembl
chr11:77043394..77043394hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6081575
Supporting Variants
Samples
Known GenesPAK1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17595588
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