A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230224



Internal ID22371813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:87749505..87802434hg38UCSC Ensembl
Outerchr13:88401760..88454689hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg3852930
hg1952930
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256951
SamplesHG00513
Known GenesLINC00397
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230224
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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