A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206183



Internal ID22354766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:44503382..44518521hg38UCSC Ensembl
Outerchr4:44505399..44520538hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3815140
hg1915140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272390, nssv14272391, nssv14272387, nssv14272388, nssv14272389, nssv14272386, nssv14272392
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206183
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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