A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001424



Internal ID18743955
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 StatusM
Merged Variantsdgv253n100
Supporting Variantsnssv3485744
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)nsv1001424
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer