A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512256



Internal ID288814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103259387..103259538hg38UCSC Ensembl
chr12:103653165..103653316hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690453
Samples
Known GenesC12orf42
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512256
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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