A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546727



Internal ID16334136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:85915967..85951042hg38UCSC Ensembl
Innerchr1:86381650..86416725hg19UCSC Ensembl
Innerchr1:86154238..86189313hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3835076
hg1935076
hg1835076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv718489
Samples
Known GenesCOL24A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546727
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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