A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547323



Internal ID16334732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:105997747..106035464hg38UCSC Ensembl
Innerchr1:106540369..106578086hg19UCSC Ensembl
Innerchr1:106341892..106379609hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3837718
hg1937718
hg1837718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv720712
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547323
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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