A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193134



Internal ID22343618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:80931576..80947446hg38UCSC Ensembl
Outerchr1:81397261..81413131hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3815871
hg1915871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260441, nssv14260438, nssv14260444, nssv14260440, nssv14260442, nssv14260443, nssv14260439
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193134
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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