A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260978



Internal ID22272708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:57596519..57619814hg38UCSC Ensembl
Outerchr17:55673880..55697175hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3823296
hg1923296
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216105
Supporting Variants
SamplesNA19239
Known GenesMSI2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260978
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer