A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227698



Internal ID22370112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206037899..206068882hg38UCSC Ensembl
Outerchr1:206272450..206303469hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg385815
hg195815
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264382, nssv14264384, nssv14264388, nssv14264383, nssv14264385, nssv14264386, nssv14264387
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesC1orf186
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227698
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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