A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547058



Internal ID15987781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103611243..103651467hg38UCSC Ensembl
Innerchr1:104153865..104194089hg19UCSC Ensembl
Innerchr1:103955388..103995612hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3840225
hg1940225
hg1840225
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv411n54
Supporting Variantsnssv719986
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547058
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