A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273696



Internal ID22185879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:148575149..148589300hg38UCSC Ensembl
Outerchr5:147954712..147968863hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3814152
hg1914152
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208787
Supporting Variants
SamplesHG00731
Known GenesHTR4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273696
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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