A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010331



Internal ID19099548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:195507567..195585957hg38UCSC Ensembl
Innerchr1:195476697..195555087hg19UCSC Ensembl
Innerchr1:193743320..193821710hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3878391
hg1978391
hg1878391
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3493176
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)nsv1010331
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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