A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210843



Internal ID22358610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:155304689..155311132hg38UCSC Ensembl
Outerchr3:155022478..155028921hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg383534
hg193534
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271944, nssv14271628, nssv14271627, nssv14271626, nssv14271941, nssv14271942, nssv14271943, nssv14271945, nssv14271625
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)nsv3210843
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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