A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006502



Internal ID19095719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109683506..109697544hg38UCSC Ensembl
Innerchr1:110226128..110240166hg19UCSC Ensembl
Innerchr1:110027651..110041689hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3814039
hg1914039
hg1814039
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv267n100
Supporting Variantsnssv3496471, nssv3493341, nssv3483119, nssv3701882, nssv3490551, nssv3701884, nssv3701881, nssv3500249, nssv3484153, nssv3501260, nssv3484654, nssv3701883, nssv3494338, nssv3485761, nssv3497421, nssv3495220, nssv3484710, nssv3496888, nssv3496898
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)nsv1006502
Frequency
Sample Size11257
Observed Gain3
Observed Loss16
Observed Complex0
Frequencyn/a


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