A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547204



Internal ID15987927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103719086..103808155hg38UCSC Ensembl
Innerchr1:104261708..104350777hg19UCSC Ensembl
Innerchr1:104063231..104152300hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3889070
hg1989070
hg1889070
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv720200
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)nsv547204
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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