A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496529



Internal ID273602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28924636..28968915hg38UCSC Ensembl
chr12:29077569..29121848hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3844280
hg1944280
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057464
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496529
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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