A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283518



Internal ID22255157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:87857802..87883038hg38UCSC Ensembl
Outerchr9:90472717..90497953hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg38747
hg19747
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232078
Supporting Variants
SamplesNA19238
Known GenesLOC392364, SPATA31E1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283518
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