A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205754



Internal ID22354400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:132261264..132280925hg38UCSC Ensembl
Outerchr3:131980108..131999769hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3819662
hg1919662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270256, nssv14270257, nssv14270258, nssv14270255, nssv14270254
SamplesNA19238, HG00731, NA19240, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205754
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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