A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222954



Internal ID22366865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:48685272..48749334hg38UCSC Ensembl
Outerchr13:49259408..49323470hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3864063
hg1964063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256529
SamplesHG00732
Known GenesCYSLTR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222954
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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