A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215628



Internal ID22361894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:116426467..116454927hg38UCSC Ensembl
Outerchr1:116969089..116997549hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg382221
hg192221
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263141, nssv14263143, nssv14263147, nssv14263145, nssv14263142, nssv14263144, nssv14263140, nssv14263148, nssv14263146
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)nsv3215628
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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