A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv720153



Internal ID16014109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103647498..103719086hg38UCSC Ensembl
Innerchr1:104190120..104261708hg19UCSC Ensembl
Innerchr1:103991643..104063231hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3871589
hg1971589
hg1871589
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547172
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)nssv720153
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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