A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531120



Internal ID307083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2944918..2945288hg38UCSC Ensembl
chr18:2944916..2945286hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38371
hg19371
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715897
Samples
Known GenesLOC727896, LPIN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531120
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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