A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv343



Internal ID15201352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:61770698..61802486hg38UCSC Ensembl
Outerchr11:61538170..61569958hg19UCSC Ensembl
Outerchr11:61294746..61326534hg18UCSC Ensembl
Outerchr11:61294746..61326534hg17UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg387484
hg197484
hg187484
hg177484
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5361
SamplesNA19129
Known GenesFADS1, FEN1, MIR611, MYRF, TMEM258
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv343
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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