A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3639346



Internal ID18590941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:119087072..119191305hg38UCSC Ensembl
Innerchr4:120008227..120112460hg19UCSC Ensembl
Innerchr4:120227675..120331908hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38104234
hg19104234
hg18104234
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003827
Supporting Variants
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)nssv3639346
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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