A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549510



Internal ID15990233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:245473737..245484507hg38UCSC Ensembl
Innerchr1:245637039..245647809hg19UCSC Ensembl
Innerchr1:243703662..243714432hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3810771
hg1910771
hg1810771
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv883n54
Supporting Variantsnssv739494, nssv739450, nssv739458, nssv739465, nssv739462, nssv739490, nssv739452, nssv739456, nssv739453, nssv739484, nssv739489, nssv739473, nssv739457, nssv739488, nssv739480, nssv739487, nssv739451, nssv739461, nssv739481, nssv739464, nssv739472, nssv739485, nssv739492, nssv739463, nssv739474, nssv739460, nssv739455, nssv739491, nssv739477, nssv739495, nssv739486, nssv739470, nssv739471, nssv739493, nssv739454, nssv739475, nssv739479, nssv739496, nssv739483, nssv739467, nssv739466, nssv739482, nssv739459, nssv739478, nssv739468, nssv739476, nssv739469
Samples
Known GenesKIF26B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549510
Frequency
Sample Size17421
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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