A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2845404



Internal ID15352588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103567263..103630575hg38UCSC Ensembl
Innerchr1:104109885..104173197hg19UCSC Ensembl
Innerchr1:103911408..103974720hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3863313
hg1963313
hg1863313
Variant TypeCNV gain
Copy Number6
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514909
Supporting Variants
SamplesNA18874
Known GenesACTG1P4, AMY2A, AMY2B
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2845404
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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