A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510869



Internal ID15478365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:155552481..155600316hg38UCSC Ensembl
OuterchrX:154782142..154829977hg19UCSC Ensembl
OuterchrX:154435336..154483171hg18UCSC Ensembl
OuterchrX:154345846..154393681hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3847836
hg1947836
hg1847836
hg1747836
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622652
SamplesNA18994
Known GenesTMLHE
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)nsv510869
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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