A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5906008



Internal ID22681202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168632789..168636055hg38UCSC Ensembl
chr2:169489299..169492565hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg383267
hg193267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17403843
Samples
Known GenesCERS6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5906008
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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