A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261570



Internal ID22270040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:26729858..26959693hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38229836
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226750
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261570
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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