A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253103



Internal ID22116034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137779244..137782326hg38UCSC Ensembl
Outerchr9:140673696..140676778hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38515
hg19515
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243130
Supporting Variants
SamplesHG00512
Known GenesEHMT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253103
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