A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549264



Internal ID16336673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225117269..225288323hg38UCSC Ensembl
Innerchr1:225304971..225476025hg19UCSC Ensembl
Innerchr1:223371594..223542648hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38171055
hg19171055
hg18171055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv737362
Samples
Known GenesDNAH14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549264
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