A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv720188



Internal ID16014144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103681656..103727325hg38UCSC Ensembl
Innerchr1:104224278..104269947hg19UCSC Ensembl
Innerchr1:104025801..104071470hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3845670
hg1945670
hg1845670
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547199
Supporting Variants
Samples
Known GenesAMY1A, AMY1B, AMY1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv720188
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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