A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510856



Internal ID15826881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:120949079..120983123hg38UCSC Ensembl
OuterchrX:120082933..120116977hg19UCSC Ensembl
OuterchrX:119910614..119944658hg18UCSC Ensembl
OuterchrX:119808468..119842512hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3834045
hg1934045
hg1834045
hg1734045
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617451, nssv622647, nssv618883, nssv620041
SamplesCHM, NA15510, NA18994, NA10860
Known GenesCT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9
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)nsv510856
Frequency
Sample Size4
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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