A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008352



Internal ID18750883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:819605..1041628hg38UCSC Ensembl
Innerchr4:813393..1035416hg19UCSC Ensembl
Innerchr4:803393..1025416hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38222024
hg19222024
hg18222024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3616099
Samples
Known GenesCPLX1, DGKQ, FGFRL1, GAK, IDUA, SLC26A1, TMEM175
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008352
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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