A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6492374



Internal ID21149927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124825582..124826109hg38UCSC Ensembl
chr12:125310128..125310655hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38528
hg19528
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192547
Samples
Known GenesSCARB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6492374
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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