A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204700



Internal ID22353509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:84049421..84062167hg38UCSC Ensembl
Outerchr1:84515104..84527850hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3812747
hg1912747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261303, nssv14261302, nssv14261306, nssv14261305, nssv14261304, nssv14261307, nssv14261309, nssv14261308
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204700
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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