A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217887



Internal ID22363411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:32668628..32675054hg38UCSC Ensembl
Outerchr3:32710120..32716546hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg382563
hg192563
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271353, nssv14271349, nssv14271351, nssv14271348, nssv14271354, nssv14271352, nssv14271347, nssv14271350, nssv14271346
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)nsv3217887
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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