A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201123



Internal ID22350472
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270231, nssv14270234, nssv14270237, nssv14270236, nssv14270235, nssv14270233, nssv14270232
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00514
Known GenesROPN1B, SLC41A3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201123
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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