A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546979



Internal ID16334388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103578560..103586461hg38UCSC Ensembl
Innerchr1:104121182..104129083hg19UCSC Ensembl
Innerchr1:103922705..103930606hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg387902
hg197902
hg187902
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv719763
Samples
Known GenesAMY2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546979
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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