A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875118



Internal ID22650073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40072682..40097932hg38UCSC Ensembl
chr2:40299822..40325072hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3825251
hg1925251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394902
Samples
Known GenesSLC8A1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875118
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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