A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242030



Internal ID22375145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:43229876..43361712hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3868204
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3570n152
Supporting Variantsnssv14261599, nssv14261600, nssv14261601
SamplesHG00512, NA19238, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242030
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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