A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250060



Internal ID22344724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:62204687..62230957hg38UCSC Ensembl
Outerchr17:60282048..60308318hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381030
hg191030
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262183, nssv14262182, nssv14262178, nssv14262177, nssv14262176, nssv14262181, nssv14262179, nssv14262180
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250060
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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