A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014216



Internal ID18756749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9711988..10222212hg38UCSC Ensembl
Innerchr4:9713612..10223836hg19UCSC Ensembl
Innerchr4:9322710..9832934hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38510225
hg19510225
hg18510225
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5117n100
Supporting Variantsnssv3613417
Samples
Known GenesDRD5, MIR3138, SLC2A9, WDR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014216
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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