A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261704



Internal ID22133624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:37758411..37785718hg38UCSC Ensembl
Outerchr1:38224083..38251390hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg382477
hg192477
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220847
Supporting Variants
SamplesHG00513
Known GenesEPHA10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261704
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