A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510870



Internal ID15478366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:155686374..155710408hg38UCSC Ensembl
OuterchrX:154916035..154940069hg19UCSC Ensembl
OuterchrX:154569229..154593263hg18UCSC Ensembl
OuterchrX:154479739..154503773hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3824035
hg1924035
hg1824035
hg1724035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620045, nssv617452, nssv618892
SamplesCHM, NA15510, NA10860
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)nsv510870
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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