A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243523



Internal ID22375594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1204098..1251380hg38UCSC Ensembl
Outerchr16:1254098..1301381hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381550
hg191550
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260069, nssv14260071, nssv14260070
SamplesNA19238, NA19240, HG00733
Known GenesCACNA1H, TPSAB1, TPSB2, TPSG1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243523
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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