A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222467



Internal ID22364433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:37811579..37816794hg38UCSC Ensembl
Outerchr5:37811681..37816896hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3813920
hg1913920
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276317
SamplesHG00732
Known GenesGDNF
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222467
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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