A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv720116



Internal ID15667386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103627698..103671558hg38UCSC Ensembl
Innerchr1:104170320..104214180hg19UCSC Ensembl
Innerchr1:103971843..104015703hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3843861
hg1943861
hg1843861
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547141
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)nssv720116
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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