A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547145



Internal ID15987868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103629022..103668312hg38UCSC Ensembl
Innerchr1:104171644..104210934hg19UCSC Ensembl
Innerchr1:103973167..104012457hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3839291
hg1939291
hg1839291
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv434n54
Supporting Variantsnssv720120
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)nsv547145
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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