A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273284



Internal ID22279912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:9704437..9736042hg38UCSC Ensembl
Outerchr5:9704549..9736154hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3831606
hg1931606
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200095
Supporting Variants
SamplesNA19239
Known GenesLOC285692
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273284
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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