A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260522



Internal ID22316896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:12440246..12464025hg38UCSC Ensembl
Outerchr17:12343563..12367342hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3823780
hg1923780
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224041
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260522
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