A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230007



Internal ID22371668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:76189657..76194427hg38UCSC Ensembl
Outerchr5:75485482..75490252hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg382797
hg192797
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276329, nssv14276330
SamplesHG00732, HG00733
Known GenesSV2C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230007
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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