A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243983



Internal ID22375730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:50080455..50087721hg38UCSC Ensembl
Outerchr17:48157819..48165085hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg381642
hg191642
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262140, nssv14261647, nssv14261650, nssv14262142, nssv14261649, nssv14262141, nssv14262143, nssv14261648, nssv14262139
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesITGA3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243983
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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