A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547538



Internal ID16334947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111360682..111367337hg38UCSC Ensembl
Innerchr1:111903304..111909959hg19UCSC Ensembl
Innerchr1:111704827..111711482hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg386656
hg196656
hg186656
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv722431
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547538
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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