A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6039948



Internal ID21949291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57281302..57281416hg38UCSC Ensembl
chr12:57675085..57675199hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17616174
Samples
Known GenesR3HDM2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6039948
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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