A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000819



Internal ID18743350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109681750..109714002hg38UCSC Ensembl
Innerchr1:110224372..110256624hg19UCSC Ensembl
Innerchr1:110025895..110058147hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3832253
hg1932253
hg1832253
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv265n100
Supporting Variantsnssv3501992, nssv3489429
Samples
Known GenesGSTM1, GSTM2, GSTM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000819
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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