A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549495



Internal ID15990218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:245312476..245328104hg38UCSC Ensembl
Innerchr1:245475778..245491406hg19UCSC Ensembl
Innerchr1:243542401..243558029hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3815629
hg1915629
hg1815629
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739421
Samples
Known GenesKIF26B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549495
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer