A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261395



Internal ID22202046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:53913155..53972342hg38UCSC Ensembl
Outerchr17:51990516..52049703hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3859188
hg1959188
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210464
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261395
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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