A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229920



Internal ID22371612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:40198451..40212107hg38UCSC Ensembl
Outerchr3:40239942..40253598hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg381024
hg191024
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271829, nssv14271828, nssv14271831, nssv14271830, nssv14271826, nssv14271827, nssv14271825
SamplesHG00512, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesEIF1B-AS1, MYRIP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229920
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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