A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223825



Internal ID22367479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:48880656..48975305hg38UCSC Ensembl
Outerchr13:49454792..49549441hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3894650
hg1994650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257092, nssv14257091, nssv14257094, nssv14257090, nssv14257093
SamplesNA19238, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223825
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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