A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211105



Internal ID22358775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:27207151..27224681hg38UCSC Ensembl
Outerchr17:25534177..25551707hg19UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3817531
hg1917531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260919, nssv14260918, nssv14260925, nssv14260920, nssv14260923, nssv14260921, nssv14260926, nssv14260924, nssv14260922
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211105
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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