A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547969



Internal ID15988692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:157203964..157205375hg38UCSC Ensembl
Innerchr1:157173754..157175165hg19UCSC Ensembl
Innerchr1:155440378..155441789hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381412
hg191412
hg181412
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv586n54
Supporting Variantsnssv724915, nssv724914, nssv724913
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547969
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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