A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008247



Internal ID19097466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:185352228..185376639hg38UCSC Ensembl
Innerchr1:185321360..185345771hg19UCSC Ensembl
Innerchr1:183587983..183612394hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3824412
hg1924412
hg1824412
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3704833
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008247
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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