A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210645



Internal ID22358478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:38783876..38820263hg38UCSC Ensembl
Outerchr13:39358013..39394400hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3836388
hg1936388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257060, nssv14257059
SamplesNA19238, HG00513
Known GenesFREM2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210645
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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