A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510567



Internal ID15478065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:150775167..150781167hg38UCSC Ensembl
OuterchrX:149943640..149949640hg19UCSC Ensembl
OuterchrX:149694298..149700298hg18UCSC Ensembl
OuterchrX:149614208..149620208hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618490, nssv621378, nssv622212
SamplesCHM, NA15510, NA10860
Known GenesCD99L2
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)nsv510567
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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