A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549599



Internal ID16337008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247714369..247817562hg38UCSC Ensembl
Innerchr1:247877671..247980864hg19UCSC Ensembl
Innerchr1:245944294..246047487hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38103194
hg19103194
hg18103194
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv900n54
Supporting Variantsnssv739676
Samples
Known GenesOR14A16, OR1C1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549599
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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