A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624329



Internal ID15822902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:63170159..63208785hg38UCSC Ensembl
OuterchrX:62389630..62428664hg19UCSC Ensembl
OuterchrX:62306355..62345389hg18UCSC Ensembl
OuterchrX:62172651..62211685hg17UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg3838627
hg1939035
hg1839035
hg1739035
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510929
Supporting Variants
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)nssv624329
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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