A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5925342



Internal ID22700569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42482338..42482429hg38UCSC Ensembl
chr8:42339856..42339947hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17433252
Samples
Known GenesSLC20A2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5925342
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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