A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006078



Internal ID18748609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235367709..235547476hg38UCSC Ensembl
Innerchr1:235531024..235710776hg19UCSC Ensembl
Innerchr1:233597647..233777399hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38179768
hg19179753
hg18179753
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv586n100
Supporting Variantsnssv3502080
Samples
Known GenesB3GALNT2, TBCE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006078
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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