A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530058



Internal ID306054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2892357..2919975hg38UCSC Ensembl
chr18:2892355..2919973hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3827619
hg1927619
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715894
Samples
Known GenesEMILIN2, LPIN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530058
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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