A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3485744



Internal ID18726699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109629083..109691597hg38UCSC Ensembl
Innerchr1:110171705..110234219hg19UCSC Ensembl
Innerchr1:109973228..110035742hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3862515
hg1962515
hg1862515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1001424
Supporting Variants
Samples
Known GenesAMPD2, GSTM1, GSTM2, GSTM4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3485744
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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