A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217241



Internal ID22362964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:70727114..70755881hg38UCSC Ensembl
Outerchr15:71019453..71048220hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg3828768
hg1928768
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258792, nssv14258791, nssv14258788, nssv14258790, nssv14258793, nssv14258789
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733
Known GenesUACA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217241
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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