A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3639345



Internal ID18590940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:119086758..119222694hg38UCSC Ensembl
Innerchr4:120007913..120143849hg19UCSC Ensembl
Innerchr4:120227361..120363297hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38135937
hg19135937
hg18135937
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1008115
Supporting Variants
Samples
Known GenesMYOZ2, USP53
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3639345
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer