A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197732



Internal ID22347575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:198794321..198811715hg38UCSC Ensembl
Outerchr1:198763450..198780844hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3817395
hg1917395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276348, nssv14276349, nssv14276346, nssv14276347
SamplesHG00512, NA19238, HG00513, HG00514
Known GenesMIR181A1HG
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197732
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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