A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548478



Internal ID16335887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188791497..188901352hg38UCSC Ensembl
Innerchr1:188760628..188870483hg19UCSC Ensembl
Innerchr1:187027251..187137106hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38109856
hg19109856
hg18109856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv678n54
Supporting Variantsnssv1173941
SamplesHGDP00092
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548478
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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