A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243354



Internal ID22375548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:40509519..40531807hg38UCSC Ensembl
Outerchr17:38665771..38688059hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38849
hg19849
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260640, nssv14260638, nssv14260634, nssv14260642, nssv14260635, nssv14260641, nssv14260636, nssv14260637, nssv14260639
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)nsv3243354
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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