A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210234



Internal ID22358188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:76019687..76045811hg38UCSC Ensembl
Outerchr4:76940840..76966964hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3826125
hg1926125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275091, nssv14275092
SamplesHG00732, HG00513
Known GenesART3, CXCL10, CXCL11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210234
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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