A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228979



Internal ID22370977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:30096510..30115935hg38UCSC Ensembl
Outerchr13:30670647..30690072hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3819426
hg1919426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256918
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228979
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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