A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15192904



Internal ID21331787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40678275..40678275hg38UCSC Ensembl
chr13:41252412..41252412hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3939953
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15192904
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