A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260541



Internal ID22133202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:18883619..18891180hg38UCSC Ensembl
Outerchr17:18786932..18794493hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg387562
hg197562
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220601
Supporting Variants
SamplesHG00513
Known GenesPRPSAP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260541
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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