A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210648



Internal ID22358481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:14632990..14648149hg38UCSC Ensembl
Outerchr5:14633099..14648258hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381612
hg191612
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275725, nssv14275195, nssv14275724, nssv14275723, nssv14275193, nssv14275726, nssv14275194
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210648
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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