A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195879



Internal ID22345986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149741933..149783266hg38UCSC Ensembl
Outerchr1:149713483..149754822hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3841334
hg1941340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270369, nssv14270368, nssv14270367
SamplesNA19238, NA19239, HG00513
Known GenesFCGR1A, HIST2H2BF
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195879
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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