A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008557



Internal ID18751088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109683008..109707602hg38UCSC Ensembl
Innerchr1:110225630..110250224hg19UCSC Ensembl
Innerchr1:110027153..110051747hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3824595
hg1924595
hg1824595
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv272n100
Supporting Variantsnssv3701861, nssv3493956
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)nsv1008557
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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