A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15201520



Internal ID21340322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79130726..79130726hg38UCSC Ensembl
chr5:78426549..78426549hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382528
hg192528
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3933601
Supporting Variants
SamplesHG002
Known GenesBHMT
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15201520
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