A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273715



Internal ID22198157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:25311970..25320776hg38UCSC Ensembl
Outerchr5:25312079..25320885hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg388807
hg198807
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209067
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273715
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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