A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv740012



Internal ID15687282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248587139..248626866hg38UCSC Ensembl
Innerchr1:248750440..248790167hg19UCSC Ensembl
Innerchr1:246817063..246856790hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3839728
hg1939728
hg1839728
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549701
Supporting Variants
Samples
Known GenesOR2T10, OR2T11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv740012
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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