A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275207



Internal ID22198421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:58574452..58612678hg38UCSC Ensembl
Outerchr5:57870279..57908505hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381135
hg191135
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214475
Supporting Variants
SamplesHG00732
Known GenesRAB3C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275207
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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