A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260532



Internal ID22222312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:15865627..15908843hg38UCSC Ensembl
Outerchr17:15768941..15812157hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3843217
hg1943217
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212629
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260532
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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