A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273633



Internal ID22137391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:176657759..176672275hg38UCSC Ensembl
Outerchr5:176084760..176099276hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3814517
hg1914517
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204360
Supporting Variants
SamplesHG00513
Known GenesTSPAN17
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273633
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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