A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510858



Internal ID15826883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:129359086..129413492hg38UCSC Ensembl
OuterchrX:128493063..128547469hg19UCSC Ensembl
OuterchrX:128320744..128375150hg18UCSC Ensembl
OuterchrX:128218598..128273004hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3854407
hg1954407
hg1854407
hg1754407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622649
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)nsv510858
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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