A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231155



Internal ID22372154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:17216849..17244023hg38UCSC Ensembl
Outerchr21:18589167..18616341hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg383007
hg193007
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267558, nssv14267564, nssv14267560, nssv14267557, nssv14267559, nssv14267561, nssv14267563, nssv14267562
SamplesNA19238, 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)nsv3231155
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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