A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15185793



Internal ID21324614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80315769..80315769hg38UCSC Ensembl
chr17:78289569..78289569hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3936782
Supporting Variants
SamplesHG002
Known GenesRNF213
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15185793
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