A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008680



Internal ID18751211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:102232552..102285398hg38UCSC Ensembl
Innerchr4:103153709..103206555hg19UCSC Ensembl
Innerchr4:103372732..103425578hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3852847
hg1952847
hg1852847
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5346n100
Supporting Variantsnssv3631015
Samples
Known GenesSLC39A8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008680
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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