A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274939



Internal ID22125341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:84636211..84693637hg38UCSC Ensembl
Outerchr5:83932029..83989455hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3857427
hg1957427
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192184
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274939
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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