A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618888



Internal ID15818692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:137422190..137502425hg38UCSC Ensembl
OuterchrX:136504349..136584584hg19UCSC Ensembl
OuterchrX:136332015..136412250hg18UCSC Ensembl
OuterchrX:136229869..136310104hg17UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3880236
hg1980236
hg1880236
hg1780236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510862
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)nssv618888
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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