A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv112n172



Internal ID22814486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133424497..133764675hg38UCSC Ensembl
chr10:135238001..135502000hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38340179
hg19264000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4431270, nsv4431271
SamplesBTQ038, BTQ016
Known GenesCYP2E1, DUX2, DUX4, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, FRG2B, LOC100653046, SCART1, SPRN, SPRNP1, SYCE1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv112n172
Frequency
Sample Size15
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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