A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008447



Internal ID18750978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152838695..152881272hg38UCSC Ensembl
Innerchr1:152811171..152853748hg19UCSC Ensembl
Innerchr1:151077795..151120372hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3842578
hg1942578
hg1842578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3496014
Samples
Known GenesLCE6A, SMCP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008447
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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