A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684248



Internal ID107914
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 StatusS
Merged Variantsnsv5553884
Supporting Variants
Samples
Known GenesMETAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684248
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.052201


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