A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212629



Internal ID22359813
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260533, nssv14260532, nssv14260531, nssv14260530
SamplesNA19238, HG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212629
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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