A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246871



Internal ID22376554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:56132103..56143022hg38UCSC Ensembl
Outerchr8:57044662..57055581hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3849980
hg1949980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281084
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246871
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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