A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549597



Internal ID15990320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247686171..248333561hg38UCSC Ensembl
Innerchr1:247849473..248496863hg19UCSC Ensembl
Innerchr1:245916096..246563486hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38647391
hg19647391
hg18647391
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739674
Samples
Known GenesOR11L1, OR14A16, OR1C1, OR2AK2, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T12, OR2T33, OR2T8, OR2W3, OR6F1, TRIM58
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549597
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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