A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198977



Internal ID22348634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:158888019..158921643hg38UCSC Ensembl
Outerchr1:158857809..158891433hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3833625
hg1933625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274456, nssv14274457, nssv14274459, nssv14274460, nssv14274455, nssv14274458, nssv14274452, nssv14274453, nssv14274454
SamplesHG00512, NA19238, NA19239, HG00731, 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)nsv3198977
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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