A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273543



Internal ID22264456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:45007088..45027378hg38UCSC Ensembl
Outerchr4:45009105..45029395hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg381283
hg191283
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226855
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273543
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