A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618878



Internal ID15818682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:93540305..93547112hg38UCSC Ensembl
OuterchrX:92795304..92802111hg19UCSC Ensembl
OuterchrX:92681960..92688767hg18UCSC Ensembl
OuterchrX:92601449..92608256hg17UCSC Ensembl
CytobandXq21.32
Allele length
AssemblyAllele length
hg386808
hg196808
hg186808
hg176808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv510847
Supporting Variants
SamplesNA10860
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)nssv618878
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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