A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272693



Internal ID22233119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:137515074..137565434hg38UCSC Ensembl
Outerchr5:136850763..136901123hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3850361
hg1950361
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205598
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272693
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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