A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001347



Internal ID18743878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109683286..109707956hg38UCSC Ensembl
Innerchr1:110225908..110250578hg19UCSC Ensembl
Innerchr1:110027431..110052101hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3824671
hg1924671
hg1824671
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv265n100
Supporting Variantsnssv3484567
Samples
Known GenesGSTM1, GSTM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001347
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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