A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546957



Internal ID15987680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103563013..103633467hg38UCSC Ensembl
Innerchr1:104105635..104176089hg19UCSC Ensembl
Innerchr1:103907158..103977612hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3870455
hg1970455
hg1870455
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv394n54
Supporting Variantsnssv719738, nssv719737
Samples
Known GenesACTG1P4, AMY2A, AMY2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546957
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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