A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508749



Internal ID6099329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:3556184..3565237hg19UCSC Ensembl
OuterchrX:3566184..3575237hg18UCSC Ensembl
OuterchrX:3549545..3558598hg17UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg196013
hg186013
hg176013
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv620938
SamplesNA15510
Known GenesPRKX
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)nsv508749
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