A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271877



Internal ID22197861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:172689578..172693265hg38UCSC Ensembl
Outerchr3:172407368..172411055hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg381029
hg191029
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213988
Supporting Variants
SamplesHG00732
Known GenesNCEH1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271877
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