A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549479



Internal ID15990202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243455015..243474037hg38UCSC Ensembl
Innerchr1:243618317..243637339hg19UCSC Ensembl
Innerchr1:241684940..241703962hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3819023
hg1919023
hg1819023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739158
Samples
Known GenesSDCCAG8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549479
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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