A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229346



Internal ID22371224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:70040968..70114851hg38UCSC Ensembl
Outerchr4:70906685..70980568hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg384374
hg194374
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274091, nssv14274093, nssv14274088, nssv14274087, nssv14274086, nssv14274090, nssv14274092, nssv14274085, nssv14274089
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCSN1S2AP, HTN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229346
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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