A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234830



Internal ID22373133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:100705854..100722903hg38UCSC Ensembl
Outerchr15:101246059..101263108hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg381110
hg191110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258570, nssv14259487, nssv14258569
SamplesHG00512, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234830
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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