A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940741



Internal ID22716154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:89655006..89655177hg38UCSC Ensembl
chr12:90048783..90048954hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366743
Samples
Known GenesATP2B1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940741
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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