A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213540



Internal ID22360456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113343372..113407996hg38UCSC Ensembl
Outerchr13:113997687..114062311hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3864625
hg1964625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256552, nssv14256551
SamplesHG00732, HG00733
Known GenesGRTP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213540
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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