A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008751



Internal ID18751282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:63595517..63862172hg38UCSC Ensembl
Innerchr3:63581193..63847848hg19UCSC Ensembl
Innerchr3:63556233..63822888hg18UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38266656
hg19266656
hg18266656
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3594610
Samples
Known GenesC3orf49, SNTN, SYNPR, THOC7, THOC7-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008751
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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