A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547201



Internal ID15987924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103687506..103750309hg38UCSC Ensembl
Innerchr1:104230128..104292931hg19UCSC Ensembl
Innerchr1:104031651..104094454hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3862804
hg1962804
hg1862804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv445n54
Supporting Variantsnssv720190, nssv720191
Samples
Known GenesAMY1A, AMY1B, AMY1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547201
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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