A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261369



Internal ID22145518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:31197279..31275989hg38UCSC Ensembl
Outerchr17:29524297..29603007hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3878711
hg1978711
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228772
Supporting Variants
SamplesHG00514
Known GenesNF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261369
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