A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145966



Internal ID345171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31150046..31150374hg38UCSC Ensembl
chr18:28730009..28730337hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717056
Samples
Known GenesDSC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145966
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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