A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549647



Internal ID15990370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248568548..248620944hg38UCSC Ensembl
Innerchr1:248731849..248784245hg19UCSC Ensembl
Innerchr1:246798472..246850868hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3852397
hg1952397
hg1852397
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv911n54
Supporting Variantsnssv739777
Samples
Known GenesOR2T10, OR2T34
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549647
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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