A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274683



Internal ID22277914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:205513..318871hg38UCSC Ensembl
Outerchr5:205628..318986hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381859
hg191859
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212241
Supporting Variants
SamplesNA19239
Known GenesAHRR, CCDC127, LOC102467073, PDCD6, SDHA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274683
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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