A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008303



Internal ID19097522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:199913034..199984638hg38UCSC Ensembl
Innerchr1:199882162..199953766hg19UCSC Ensembl
Innerchr1:198148785..198220389hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3871605
hg1971605
hg1871605
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3495838
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)nsv1008303
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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