A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15749213



Internal ID21384282
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 StatusS
Merged Variantsnsv4431270
Supporting Variants
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)nssv15749213
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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