A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553884



Internal ID327088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95476539..95476539hg38UCSC Ensembl
chr12:95870315..95870315hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684248
Samples
Known GenesMETAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553884
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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