A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6034676



Internal ID21944019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31040890..31042129hg38UCSC Ensembl
chr18:28620856..28622095hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17623939
Samples
Known GenesDSC3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6034676
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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