A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245151



Internal ID22376070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:56792250..56797744hg38UCSC Ensembl
Outerchr17:54869611..54875105hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg381277
hg191277
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262166, nssv14262161, nssv14262163, nssv14262167, nssv14262164, nssv14262168, nssv14262162, nssv14262160, nssv14262165
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesC17orf67
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245151
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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