A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17405320



Internal ID22463190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40493467..40497050hg38UCSC Ensembl
chr2:40720607..40724190hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg383584
hg193584
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5885978
Supporting Variants
Samples
Known GenesSLC8A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17405320
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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