A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261281



Internal ID22133468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:77578970..77580396hg38UCSC Ensembl
Outerchr17:75575052..75576478hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231442
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261281
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