A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250017



Internal ID22377422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:41442460..41447117hg38UCSC Ensembl
Outerchr13:42016596..42021253hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3814299
hg1914299
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257529
SamplesNA19239
Known GenesOR7E37P
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250017
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