A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv548289



Internal ID15211308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16928200..16954743hg38UCSC Ensembl
Outerchr1:17254695..17281238hg19UCSC Ensembl
Outerchr1:17127282..17153825hg18UCSC Ensembl
Outerchr1:17000001..17026544hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3826544
hg1926544
hg1826544
hg1726544
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv471438
Supporting Variants
SamplesJDW
Known GenesCROCC
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
CommentsCROCC
ReferenceAlkan_et_al_2009
Pubmed ID19718026
Accession Number(s)nssv548289
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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