A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548930



Internal ID16336339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:199043349..199111012hg38UCSC Ensembl
Innerchr1:199012478..199080141hg19UCSC Ensembl
Innerchr1:197279101..197346764hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3867664
hg1967664
hg1867664
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv734446
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548930
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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