A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549496



Internal ID16336905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:245393992..245467112hg38UCSC Ensembl
Innerchr1:245557294..245630414hg19UCSC Ensembl
Innerchr1:243623917..243697037hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3873121
hg1973121
hg1873121
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739422
Samples
Known GenesKIF26B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549496
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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