A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3947117



Internal ID21367186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138143607..138143673hg38UCSC Ensembl
chr5:137479296..137479362hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15196932
SamplesHG002
Known GenesBRD8
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3947117
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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