A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003219



Internal ID18745750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:776106..1111676hg38UCSC Ensembl
Innerchr4:769894..1105464hg19UCSC Ensembl
Innerchr4:759894..1095464hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38335571
hg19335571
hg18335571
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3616098
Samples
Known GenesCPLX1, DGKQ, FGFRL1, GAK, IDUA, LOC100129917, RNF212, 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)nsv1003219
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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