A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548374



Internal ID15557919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103616658..103667879hg38UCSC Ensembl
Outerchr1:104159280..104210501hg19UCSC Ensembl
Outerchr1:103960803..104012024hg18UCSC Ensembl
Outerchr1:103871301..103922522hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3851222
hg1951222
hg1851222
hg1751222
Variant TypeCNV gain
Copy Number6
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471475
Supporting Variants
SamplesJDW
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSequencing
AnalysisWe constructed duplication maps for each of the three genomes and estimated the absolute copy number of each duplication interval larger than 20 kb in length. We considered a given segment to be duplicated within an individual if the median estimated copy number for that individual was >2.5.
PlatformIllumina Genome Analyzer and Roche/454 sequencer. For arrayCGH validation experiments we used Nimblegen
CommentsAMY2A
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548374
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer