A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548404



Internal ID16335813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186677972..186680176hg38UCSC Ensembl
Innerchr1:186647104..186649308hg19UCSC Ensembl
Innerchr1:184913727..184915931hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg382205
hg192205
hg182205
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv729851
Samples
Known GenesPTGS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548404
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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