A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225315



Internal ID22368484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38056102..38092686hg38UCSC Ensembl
Outerchr3:38097593..38134177hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg383748
hg193748
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271373, nssv14271375, nssv14271379, nssv14271376, nssv14271378, nssv14271377, nssv14271374
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesDLEC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225315
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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