A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003083



Internal ID18745615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109631914..109700319hg38UCSC Ensembl
Innerchr1:110174536..110242941hg19UCSC Ensembl
Innerchr1:109976059..110044464hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3868406
hg1968406
hg1868406
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv255n100
Supporting Variantsnssv3488072
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)nsv1003083
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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