A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549508



Internal ID15990231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:245473737..245484059hg38UCSC Ensembl
Innerchr1:245637039..245647361hg19UCSC Ensembl
Innerchr1:243703662..243713984hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3810323
hg1910323
hg1810323
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv883n54
Supporting Variantsnssv739440, nssv739439
Samples
Known GenesKIF26B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549508
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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