A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200167



Internal ID22349655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:145981008..146012025hg38UCSC Ensembl
Outerchr4:146902160..146933177hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg3831018
hg1931018
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272820, nssv14272822, nssv14272821
SamplesHG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200167
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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