A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264231



Internal ID22258972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40642988..40659895hg38UCSC Ensembl
Outerchr19:41148893..41165800hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38907
hg19907
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233284
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264231
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