A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549509



Internal ID15990232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:245473737..245484424hg38UCSC Ensembl
Innerchr1:245637039..245647726hg19UCSC Ensembl
Innerchr1:243703662..243714349hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3810688
hg1910688
hg1810688
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv883n54
Supporting Variantsnssv739447, nssv1174084, nssv739446, nssv739444, nssv739442, nssv739448, nssv739443, nssv739449, nssv739445, nssv739441
SamplesHGDP00683
Known GenesKIF26B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549509
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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