A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201020



Internal ID22350387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:46010908..46065955hg38UCSC Ensembl
Outerchr4:46012925..46067972hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3855048
hg1955048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272395, nssv14272394
SamplesHG00512, NA19238
Known GenesGABRG1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201020
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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