A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502247



Internal ID279121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55958880..55959041hg38UCSC Ensembl
chr12:56352664..56352825hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057598
Samples
Known GenesPMEL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502247
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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