A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005698



Internal ID18748229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8434559..10248775hg38UCSC Ensembl
Innerchr4:8436286..10250399hg19UCSC Ensembl
Innerchr4:8487186..9859497hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381814217
hg191814114
hg181372312
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3616189
Samples
Known GenesACOX3, CPZ, DEFB131, DRD5, GPR78, HMX1, LOC650293, MIR3138, MIR548I2, SLC2A9, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP17L6P, USP17L9P, WDR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005698
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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