A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv719758



Internal ID15667028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103567100..103719276hg38UCSC Ensembl
Innerchr1:104109722..104261898hg19UCSC Ensembl
Innerchr1:103911245..104063421hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38152177
hg19152177
hg18152177
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546974
Supporting Variants
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)nssv719758
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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