A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218780



Internal ID22364018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:18038332..18069156hg38UCSC Ensembl
Outerchr1:18364826..18395650hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg384881
hg194881
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261397, nssv14260419, nssv14260414, nssv14260420, nssv14260415, nssv14260418, nssv14260421, nssv14260416, nssv14260417
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)nsv3218780
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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