A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6320614



Internal ID20853713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153326693..153554324hg38UCSC Ensembl
chr1:153299169..153526800hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38227632
hg19227632
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200472
Samples
Known GenesPGLYRP4, S100A12, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A7L2, S100A8, S100A9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6320614
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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