A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007750



Internal ID18750281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:46005621..46086892hg38UCSC Ensembl
Innerchr1:46471293..46552564hg19UCSC Ensembl
Innerchr1:46243880..46325151hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3881272
hg1981272
hg1881272
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3700653
Samples
Known GenesMAST2, PIK3R3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007750
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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