A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4431270



Internal ID21393272
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 Variantsdgv112n172
Supporting Variantsnssv15749213
SamplesBTQ016
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)nsv4431270
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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