A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546997



Internal ID16334406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103594629..103756622hg38UCSC Ensembl
Innerchr1:104137251..104299244hg19UCSC Ensembl
Innerchr1:103938774..104100767hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38161994
hg19161994
hg18161994
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv401n54
Supporting Variantsnssv719790, nssv719789, nssv719786, nssv719788, nssv719791, nssv719785, nssv719787, nssv719792
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546997
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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