A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437160



Internal ID215758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8970465..8970550hg38UCSC Ensembl
chr2:9110594..9110679hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909017
Samples
Known GenesMBOAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437160
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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