A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546978



Internal ID15987701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103577475..103623702hg38UCSC Ensembl
Innerchr1:104120097..104166324hg19UCSC Ensembl
Innerchr1:103921620..103967847hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3846228
hg1946228
hg1846228
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv398n54
Supporting Variantsnssv719762
Samples
Known GenesAMY2A, AMY2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546978
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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