A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502663



Internal ID279522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14867691..14867908hg38UCSC Ensembl
chr12:15020625..15020842hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054258
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502663
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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