A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5877176



Internal ID22652139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40392478..40393122hg38UCSC Ensembl
chr2:40619618..40620262hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38645
hg19645
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390719
Samples
Known GenesSLC8A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5877176
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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