A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546976



Internal ID15987699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103567100..103877208hg38UCSC Ensembl
Innerchr1:104109722..104419830hg19UCSC Ensembl
Innerchr1:103911245..104221353hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38310109
hg19310109
hg18310109
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv719760
Samples
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546976
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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