A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6334373



Internal ID20867558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185947201..185953800hg38UCSC Ensembl
chr1:185916333..185922932hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg386600
hg196600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv461n223
Supporting Variantsnssv18201781
Samples
Known GenesHMCN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6334373
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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