A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139707



Internal ID338896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8897205..8897282hg38UCSC Ensembl
chr2:9037335..9037412hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909414
Samples
Known GenesMBOAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139707
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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