A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5913253



Internal ID22688469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42483000..42483324hg38UCSC Ensembl
chr8:42340518..42340842hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17438096
Samples
Known GenesSLC20A2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5913253
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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