A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15190928



Internal ID21329792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76718908..76718908hg38UCSC Ensembl
chr11:76429952..76429952hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3934996
Supporting Variants
SamplesHG002
Known GenesGUCY2EP
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15190928
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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