A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621972



Internal ID15472509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:110778213..110784213hg38UCSC Ensembl
OuterchrX:110021441..110027441hg19UCSC Ensembl
OuterchrX:109908097..109914097hg18UCSC Ensembl
OuterchrX:109827586..109833586hg17UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv507988
Supporting Variants
SamplesNA10860
Known GenesCHRDL1
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)nssv621972
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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