A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15193475



Internal ID21332366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29696803..29696803hg38UCSC Ensembl
chr13:30270940..30270940hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3947920
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15193475
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