A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546950



Internal ID15987673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103555093..103719276hg38UCSC Ensembl
Innerchr1:104097715..104261898hg19UCSC Ensembl
Innerchr1:103899238..104063421hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38164184
hg19164184
hg18164184
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv392n54
Supporting Variantsnssv719724
Samples
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, RNPC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546950
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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