A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261352



Internal ID22133506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:35973275..35989019hg38UCSC Ensembl
Outerchr17:34300305..34316055hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3815745
hg1915751
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211998
Supporting Variants
SamplesHG00513
Known GenesCCL14, CCL15-CCL14, CCL16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261352
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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