A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194566



Internal ID22344868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:134512323..134580197hg38UCSC Ensembl
Outerchr4:135433478..135501352hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3867875
hg1967875
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274512, nssv14274510, nssv14274511
SamplesHG00731, HG00732, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194566
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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