A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203903



Internal ID22352844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178348210..178417193hg38UCSC Ensembl
Outerchr5:177775211..177844194hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3868984
hg1968984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273247, nssv14273249, nssv14273251, nssv14273253, nssv14273252, nssv14273255, nssv14273250, nssv14273254, nssv14273248
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCOL23A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203903
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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