A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225616



Internal ID22368691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:38726208..38761018hg38UCSC Ensembl
Outerchr4:38727829..38762639hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381568
hg191568
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273519, nssv14273522, nssv14273518, nssv14273523, nssv14273516, nssv14273517, nssv14273520, nssv14273521
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225616
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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