A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010250



Internal ID18752781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109683008..109703496hg38UCSC Ensembl
Innerchr1:110225630..110246118hg19UCSC Ensembl
Innerchr1:110027153..110047641hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3820489
hg1920489
hg1820489
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv269n100
Supporting Variantsnssv3484402, nssv3701859, nssv3701846, nssv3498417, nssv3497927, nssv3491144, nssv3502015, nssv3701852, nssv3701853, nssv3701854, nssv3701848, nssv3497016, nssv3701842, nssv3501377, nssv3494124, nssv3485673, nssv3701860, nssv3495877, nssv3701855, nssv3499890, nssv3701849, nssv3494651, nssv3701845, nssv3482862, nssv3492139, nssv3492907, nssv3488485, nssv3701851, nssv3487240, nssv3497818, nssv3483752, nssv3489577, nssv3489459, nssv3491156, nssv3701843, nssv3701856, nssv3701857, nssv3489324, nssv3485134, nssv3487442, nssv3701858, nssv3499909, nssv3701847, nssv3701844, nssv3493741, nssv3488983, nssv3484572, nssv3701850, nssv3701841, nssv3493425, nssv3485059
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)nsv1010250
Frequency
Sample Size29084
Observed Gain40
Observed Loss11
Observed Complex0
Frequencyn/a


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