A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6030046



Internal ID21939389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110540395..110540457hg38UCSC Ensembl
chr12:110978200..110978262hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17601476
Samples
Known GenesPPTC7
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6030046
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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