A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511087



Internal ID15478581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:140978381..141025775hg38UCSC Ensembl
OuterchrX:140060546..140119951hg19UCSC Ensembl
OuterchrX:139888212..139947617hg18UCSC Ensembl
OuterchrX:139786066..139845471hg17UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg3847395
hg1959406
hg1859406
hg1759406
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618688
SamplesCHM
Known GenesSPANXB1, SPANXB2, SPANXF1
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)nsv511087
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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