A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203438



Internal ID22352451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:176653446..176671488hg38UCSC Ensembl
Outerchr5:176080447..176098489hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3818043
hg1918043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7637n152
Supporting Variantsnssv14273654
SamplesHG00514
Known GenesTSPAN17
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203438
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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