A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007256



Internal ID18749787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:126163635..126238737hg38UCSC Ensembl
Innerchr3:125882478..125957580hg19UCSC Ensembl
Innerchr3:127365168..127440270hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3875103
hg1975103
hg1875103
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3603494
Samples
Known GenesALDH1L1, ALDH1L1-AS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007256
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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