A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547996



Internal ID16335405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158755555..158757804hg38UCSC Ensembl
Innerchr1:158725345..158727594hg19UCSC Ensembl
Innerchr1:156991969..156994218hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg382250
hg192250
hg182250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv592n54
Supporting Variantsnssv725024, nssv725023
Samples
Known GenesOR6K6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547996
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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