A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224251



Internal ID22367738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:159699777..159715305hg38UCSC Ensembl
Outerchr6:160120809..160136337hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg381546
hg191546
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277663, nssv14277664
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224251
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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