A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv720124



Internal ID15667394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103629022..103756622hg38UCSC Ensembl
Innerchr1:104171644..104299244hg19UCSC Ensembl
Innerchr1:103973167..104100767hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38127601
hg19127601
hg18127601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547148
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)nssv720124
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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