A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242570



Internal ID22375318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:106485641..106493840hg38UCSC Ensembl
Outerchr13:107137989..107146188hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257407
SamplesHG00731
Known GenesEFNB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242570
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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