A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548691



Internal ID16336100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194556757..194668626hg38UCSC Ensembl
Innerchr1:194525887..194637756hg19UCSC Ensembl
Innerchr1:192792510..192904379hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38111870
hg19111870
hg18111870
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv724n54
Supporting Variantsnssv1173983
SamplesNINDS_95
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548691
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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