A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508989



Internal ID8791929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1623823..1846590hg38UCSC Ensembl
Outerchr4:1625550..1848317hg19UCSC Ensembl
Outerchr4:1595509..1818115hg18UCSC Ensembl
Outerchr4:1592942..1815548hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg386320
hg196320
hg186320
hg176320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619362, nssv619363, nssv619364
SamplesNA10860
Known GenesFAM53A, FGFR3, LETM1, SLBP, TACC3, TMEM129
MethodOptical mapping
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


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