A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547146



Internal ID15987869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103629022..103671558hg38UCSC Ensembl
Innerchr1:104171644..104214180hg19UCSC Ensembl
Innerchr1:103973167..104015703hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3842537
hg1942537
hg1842537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv434n54
Supporting Variantsnssv720121, nssv720122
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)nsv547146
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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