A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256638



Internal ID22131842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:35731483..35754623hg38UCSC Ensembl
Outerchr13:36305620..36328760hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg382037
hg192037
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235571
Supporting Variants
SamplesHG00513
Known GenesMIR548F5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256638
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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