A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547010



Internal ID15987733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103597390..103645073hg38UCSC Ensembl
Innerchr1:104140012..104187695hg19UCSC Ensembl
Innerchr1:103941535..103989218hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3847684
hg1947684
hg1847684
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv407n54
Supporting Variantsnssv719807
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547010
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