A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549688



Internal ID15990411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248586905..248626898hg38UCSC Ensembl
Innerchr1:248750206..248790199hg19UCSC Ensembl
Innerchr1:246816829..246856822hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3839994
hg1939994
hg1839994
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv918n54
Supporting Variantsnssv739948, nssv739946, nssv739945, nssv739947
Samples
Known GenesOR2T10, OR2T11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549688
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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