A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5877313



Internal ID22652277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8860224..8860294hg38UCSC Ensembl
chr2:9000354..9000424hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17391487
Samples
Known GenesMBOAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5877313
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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