A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212433



Internal ID22359683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:30501561..30554780hg38UCSC Ensembl
Outerchr4:30503183..30556402hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg382660
hg192660
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273496, nssv14273494, nssv14273490, nssv14273492, nssv14273495, nssv14273493, nssv14273491
SamplesHG00512, NA19238, 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)nsv3212433
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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