A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224957



Internal ID22368237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:152689271..152696147hg38UCSC Ensembl
Outerchr3:152407060..152413936hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg384580
hg194580
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271604, nssv14271603, nssv14271608, nssv14271605, nssv14271606, nssv14271607, nssv14271602, nssv14271601, nssv14271609
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)nsv3224957
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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