A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549494



Internal ID15990217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:244991842..245263357hg38UCSC Ensembl
Innerchr1:245155144..245426659hg19UCSC Ensembl
Innerchr1:243221767..243493282hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38271516
hg19271516
hg18271516
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739420
Samples
Known GenesEFCAB2, KIF26B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549494
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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