A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274777



Internal ID22277680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1391033..1424106hg38UCSC Ensembl
Outerchr5:1391148..1424221hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg383897
hg193897
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227271
Supporting Variants
SamplesNA19239
Known GenesSLC6A3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274777
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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