A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274663



Internal ID22198308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:180295541..180333705hg38UCSC Ensembl
Outerchr5:179722541..179760705hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382003
hg192003
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229856
Supporting Variants
SamplesHG00732
Known GenesGFPT2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274663
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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