A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007214



Internal ID18749745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:119086758..119191305hg38UCSC Ensembl
Innerchr4:120007913..120112460hg19UCSC Ensembl
Innerchr4:120227361..120331908hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38104548
hg19104548
hg18104548
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5373n100
Supporting Variantsnssv3639342, nssv3639344, nssv3639343
Samples
Known GenesMYOZ2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007214
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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