A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008239



Internal ID18750770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:24574524..24688420hg38UCSC Ensembl
Innerchr4:24576147..24690043hg19UCSC Ensembl
Innerchr4:24185245..24299141hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38113897
hg19113897
hg18113897
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5157n100
Supporting Variantsnssv3737757, nssv3620593
Samples
Known GenesDHX15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008239
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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