A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195344



Internal ID22345540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:149621464..149658490hg38UCSC Ensembl
Outerchr4:150542616..150579642hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg3837027
hg1937027
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272863
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195344
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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