A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234667



Internal ID22373092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:120570766..120590918hg38UCSC Ensembl
Outerchr8:121583006..121603158hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3851201
hg1951201
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280661
SamplesHG00512
Known GenesSNTB1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234667
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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