A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270232



Internal ID22146784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:125949266..126009055hg38UCSC Ensembl
Outerchr3:125668109..125727898hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3859790
hg1959790
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201123
Supporting Variants
SamplesHG00514
Known GenesROPN1B, SLC41A3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270232
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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