A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272617



Internal ID22262455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:100499999..100548609hg38UCSC Ensembl
Outerchr5:99835703..99884313hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3848611
hg1948611
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209406
Supporting Variants
SamplesNA19238
Known GenesFAM174A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272617
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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