A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007736



Internal ID18750267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:117614642..117631600hg38UCSC Ensembl
Innerchr1:118157264..118174222hg19UCSC Ensembl
Innerchr1:117958787..117975745hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3816959
hg1916959
hg1816959
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3702058
Samples
Known GenesFAM46C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007736
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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