A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508989



Internal ID6095991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1625550..1848317hg19UCSC Ensembl
Outerchr4:1595509..1818115hg18UCSC Ensembl
Outerchr4:1592942..1815548hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv619362, nssv619363, nssv619364
SamplesNA10860
Known GenesFAM53A, FGFR3, LETM1, SLBP, TACC3, TMEM129
Method
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague et al 2010
Pubmed ID20534489
Accession Number(s)nsv508989
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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