A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272741



Internal ID22262459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:166401172..166427389hg38UCSC Ensembl
Outerchr5:165828177..165854394hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3826218
hg1926218
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209677
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272741
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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