A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv720103



Internal ID15667373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103625156..103669454hg38UCSC Ensembl
Innerchr1:104167778..104212076hg19UCSC Ensembl
Innerchr1:103969301..104013599hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3844299
hg1944299
hg1844299
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547135
Supporting Variants
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv720103
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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