A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197788



Internal ID22347625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:152620418..152681926hg38UCSC Ensembl
Outerchr5:151999978..152061486hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3861509
hg1961509
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273563
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197788
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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