A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508767



Internal ID6096155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:46919675..46949588hg19UCSC Ensembl
OuterchrX:46804619..46834532hg18UCSC Ensembl
OuterchrX:46675929..46705842hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg193017
hg183017
hg173017
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv619586
SamplesNA10860
Known GenesPHF16, RGN
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)nsv508767
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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