A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6331577



Internal ID20864741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169481801..169487700hg38UCSC Ensembl
chr1:169451039..169456938hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg385900
hg195900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201647
Samples
Known GenesSLC19A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6331577
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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