A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943484



Internal ID22718933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:47657484..47660304hg38UCSC Ensembl
chr15:47949681..47952501hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg382821
hg192821
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17381768
Samples
Known GenesSEMA6D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943484
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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