A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192184



Internal ID22342801
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272589, nssv14272591, nssv14272590, nssv14272592, nssv14272587, nssv14274939, nssv14272588
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192184
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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