A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001689



Internal ID19090906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109679093..109703496hg38UCSC Ensembl
Innerchr1:110221715..110246118hg19UCSC Ensembl
Innerchr1:110023238..110047641hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3824404
hg1924404
hg1824404
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv264n100
Supporting Variantsnssv3484245, nssv3483751, nssv3501408
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)nsv1001689
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer