A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947887



Internal ID22723379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139435705..139435705hg38UCSC Ensembl
chr5:138771394..138771394hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17426024
Samples
Known GenesDNAJC18
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947887
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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