A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199570



Internal ID22349135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178950985..178979189hg38UCSC Ensembl
Outerchr5:178377986..178406190hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3828205
hg1928205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273635, nssv14273634
SamplesHG00513, HG00514
Known GenesGRM6, ZNF454
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199570
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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