A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548053



Internal ID15988776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:159915710..159938603hg38UCSC Ensembl
Innerchr1:159885500..159908393hg19UCSC Ensembl
Innerchr1:158152124..158175017hg18UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg3822894
hg1922894
hg1822894
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv727671
Samples
Known GenesIGSF9, TAGLN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548053
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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