A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260826



Internal ID22184396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:15277979..15284194hg38UCSC Ensembl
Outerchr17:15181296..15187511hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg386216
hg196216
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225547
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260826
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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