A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510814



Internal ID15826839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:11689320..11715322hg38UCSC Ensembl
OuterchrX:11707440..11733442hg19UCSC Ensembl
OuterchrX:11617361..11643363hg18UCSC Ensembl
OuterchrX:11467097..11493099hg17UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3826003
hg1926003
hg1826003
hg1726003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622618
SamplesNA18994
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)nsv510814
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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