A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273663



Internal ID22185457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:24815365..24896043hg38UCSC Ensembl
Outerchr5:24815474..24896152hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg3880679
hg1980679
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196684
Supporting Variants
SamplesHG00731
Known GenesLOC340107
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273663
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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