A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547118



Internal ID15987841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103623702..103679831hg38UCSC Ensembl
Innerchr1:104166324..104222453hg19UCSC Ensembl
Innerchr1:103967847..104023976hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3856130
hg1956130
hg1856130
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv424n54
Supporting Variantsnssv720080, nssv720081
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)nsv547118
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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