A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547094



Internal ID15987817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103613322..103623702hg38UCSC Ensembl
Innerchr1:104155944..104166324hg19UCSC Ensembl
Innerchr1:103957467..103967847hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3810381
hg1910381
hg1810381
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv423n54
Supporting Variantsnssv720045, nssv720044, nssv720047, nssv720046
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547094
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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