A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002675



Internal ID19091892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109677464..109700319hg38UCSC Ensembl
Innerchr1:110220086..110242941hg19UCSC Ensembl
Innerchr1:110021609..110044464hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3822856
hg1922856
hg1822856
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv262n100
Supporting Variantsnssv3491529, nssv3493195, nssv3495253, nssv3499178, nssv3502136, nssv3483569, nssv3501175, nssv3483433, nssv3487436, nssv3495811, nssv3492291, nssv3488743, nssv3497075, nssv3500180, nssv3488569, nssv3491437
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)nsv1002675
Frequency
Sample Size11257
Observed Gain14
Observed Loss2
Observed Complex0
Frequencyn/a


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