A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273676



Internal ID22185476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:87974418..87997879hg38UCSC Ensembl
Outerchr5:87270235..87293696hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3823462
hg1923462
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195016
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273676
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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