A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218763



Internal ID22364006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:210627183..210669006hg38UCSC Ensembl
Outerchr1:210800527..210842347hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg383406
hg193406
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264908, nssv14264907, nssv14264912, nssv14264911, nssv14264910, nssv14264904, nssv14264909, nssv14264905, nssv14264906
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesHHAT
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218763
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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