A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273625



Internal ID22139551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150779021..150845226hg38UCSC Ensembl
Outerchr5:150158583..150224788hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3866206
hg1966206
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199497
Supporting Variants
SamplesHG00513
Known GenesSMIM3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273625
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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