A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548289



Internal ID15989012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179361038..179365666hg38UCSC Ensembl
Innerchr1:179330173..179334801hg19UCSC Ensembl
Innerchr1:177596796..177601424hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg384629
hg194629
hg184629
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv645n54
Supporting Variantsnssv729247, nssv729246
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548289
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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