A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549502



Internal ID15990225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:245472757..245484424hg38UCSC Ensembl
Innerchr1:245636059..245647726hg19UCSC Ensembl
Innerchr1:243702682..243714349hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3811668
hg1911668
hg1811668
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv883n54
Supporting Variantsnssv1174083
SamplesHGDP00558
Known GenesKIF26B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549502
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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