A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205598



Internal ID22354268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:137515074..137565434hg38UCSC Ensembl
Outerchr5:136850763..136901123hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3850361
hg1950361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272689, nssv14272688, nssv14272696, nssv14272695, nssv14272690, nssv14272694, nssv14272693, nssv14272691, nssv14272692
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205598
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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