A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511079



Internal ID15827101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:5047228..5068988hg38UCSC Ensembl
OuterchrX:4965269..4987029hg19UCSC Ensembl
OuterchrX:4975269..4997029hg18UCSC Ensembl
OuterchrX:4825005..4846765hg17UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg3821761
hg1921761
hg1821761
hg1721761
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618683
SamplesCHM
Known Genes
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)nsv511079
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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