A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004712



Internal ID18747243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:165800971..166150003hg38UCSC Ensembl
Innerchr3:165518759..165867791hg19UCSC Ensembl
Innerchr3:167001453..167350485hg18UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38349033
hg19349033
hg18349033
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3612682
Samples
Known GenesBCHE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004712
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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