A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14249090



Internal ID21309075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133587014..133769379hg38UCSC Ensembl
Innerchr10:135400518..135506704hg19UCSC Ensembl
Innerchr10:135250508..135356694hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38182366
hg19106187
hg18106455
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170075
Supporting Variants
SamplesNGO_47
Known GenesDUX2, DUX4, DUX4L, DUX4L2, DUX4L3, DUX4L5, DUX4L6, DUX4L7, FRG2B, LOC100653046
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14249090
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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