A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000343



Internal ID19089560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188181520..188204655hg38UCSC Ensembl
Innerchr1:188150651..188173786hg19UCSC Ensembl
Innerchr1:186417274..186440409hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3823136
hg1923136
hg1823136
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3500370
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)nsv1000343
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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