A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510931



Internal ID15826953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:70802961..70969209hg38UCSC Ensembl
OuterchrX:70022811..70189059hg19UCSC Ensembl
OuterchrX:69939536..70105784hg18UCSC Ensembl
OuterchrX:69805832..69972080hg17UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38166249
hg19166249
hg18166249
hg17166249
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624330
SamplesNA18994
Known GenesSLC7A3, TEX11
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)nsv510931
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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