A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618887



Internal ID15818691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:134263116..134333635hg38UCSC Ensembl
OuterchrX:133397146..133467665hg19UCSC Ensembl
OuterchrX:133224812..133295331hg18UCSC Ensembl
OuterchrX:133122666..133193185hg17UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg3870520
hg1970520
hg1870520
hg1770520
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510861
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)nssv618887
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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