A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548703



Internal ID16336112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:195062287..195233071hg38UCSC Ensembl
Innerchr1:195031417..195202201hg19UCSC Ensembl
Innerchr1:193298040..193468824hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38170785
hg19170785
hg18170785
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv733903
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548703
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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