A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012344



Internal ID19101562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109683286..109697544hg38UCSC Ensembl
Innerchr1:110225908..110240166hg19UCSC Ensembl
Innerchr1:110027431..110041689hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3814259
hg1914259
hg1814259
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv267n100
Supporting Variantsnssv3493522, nssv3499394, nssv3499901, nssv3493637, nssv3494744, nssv3484312, nssv3485735, nssv3701864, nssv3493282, nssv3494823, nssv3483376, nssv3488869, nssv3701863, nssv3496757, nssv3485199, nssv3501777, nssv3494734, nssv3488177, nssv3496903, nssv3499741, nssv3501444, nssv3498777, nssv3501195, nssv3499639, nssv3701865, nssv3495375
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)nsv1012344
Frequency
Sample Size11257
Observed Gain9
Observed Loss17
Observed Complex0
Frequencyn/a


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