A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261367



Internal ID22145516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:9762319..9768320hg38UCSC Ensembl
Outerchr17:9665636..9671637hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg386002
hg196002
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223642
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261367
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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