A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547127



Internal ID15987850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103624903..103667788hg38UCSC Ensembl
Innerchr1:104167525..104210410hg19UCSC Ensembl
Innerchr1:103969048..104011933hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3842886
hg1942886
hg1842886
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv434n54
Supporting Variantsnssv720092
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)nsv547127
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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