A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246952



Internal ID22376571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:25130714..25171936hg38UCSC Ensembl
Outerchr13:25704852..25746074hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38441
hg19441
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257336
SamplesHG00512
Known GenesAMER2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246952
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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