A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547125



Internal ID15987848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103624903..103645987hg38UCSC Ensembl
Innerchr1:104167525..104188609hg19UCSC Ensembl
Innerchr1:103969048..103990132hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3821085
hg1921085
hg1821085
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv432n54
Supporting Variantsnssv720090
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547125
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