A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208259



Internal ID22356531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:222190620..222204379hg38UCSC Ensembl
Outerchr1:222363962..222377721hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3813760
hg1913760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258897, nssv14258898, nssv14258896
SamplesHG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208259
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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