A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195137



Internal ID22345358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:232321018..232335216hg38UCSC Ensembl
Outerchr1:232456764..232470962hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3814199
hg1914199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258121, nssv14258122
SamplesHG00731, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195137
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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