A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273712



Internal ID22198154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:14553707..14598406hg38UCSC Ensembl
Outerchr5:14553816..14598515hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3844700
hg1944700
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196729
Supporting Variants
SamplesHG00732
Known GenesFAM105A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273712
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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