A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006594



Internal ID18749125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109681750..109707602hg38UCSC Ensembl
Innerchr1:110224372..110250224hg19UCSC Ensembl
Innerchr1:110025895..110051747hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3825853
hg1925853
hg1825853
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv265n100
Supporting Variantsnssv3499527, nssv3493720, nssv3495951, nssv3498709, nssv3488661
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)nsv1006594
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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