A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200047



Internal ID22349554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177002304..177016471hg38UCSC Ensembl
Outerchr5:176429305..176443472hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3814168
hg1914168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273568
SamplesHG00512
Known GenesUIMC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200047
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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