A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549227



Internal ID15989950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:220672268..220712270hg38UCSC Ensembl
Innerchr1:220845610..220885612hg19UCSC Ensembl
Innerchr1:218912233..218952235hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3840003
hg1940003
hg1840003
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174050
SamplesHGDP01214
Known GenesC1orf115
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549227
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