A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433086



Internal ID211812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13909153..13909204hg38UCSC Ensembl
chr18:13909152..13909203hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716398
Samples
Known GenesMC2R
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433086
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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