A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222937



Internal ID22366854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:26242227..26249566hg38UCSC Ensembl
Outerchr4:26243849..26251188hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38679
hg19679
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273227, nssv14273225, nssv14273226, nssv14273228, nssv14273229
SamplesHG00512, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222937
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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