A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211934



Internal ID22359334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:152878914..152909300hg38UCSC Ensembl
Outerchr3:152596703..152627089hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg381403
hg191403
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271614, nssv14271615, nssv14271610, nssv14271611, nssv14271616, nssv14271618, nssv14271613, nssv14271617, nssv14271612
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)nsv3211934
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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