A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012676



Internal ID19101893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234121861..234135234hg38UCSC Ensembl
Innerchr1:234257607..234270980hg19UCSC Ensembl
Innerchr1:232324230..232337603hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3813374
hg1913374
hg1813374
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3496585
Samples
Known GenesSLC35F3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012676
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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