A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6534270



Internal ID20907631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:29648720..31204673hg38UCSC Ensembl
chr18:27228685..28784636hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg381555954
hg191555952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18183184
Samples
Known GenesDSC1, DSC2, DSC3, MIR302F
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6534270
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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