A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622647



Internal ID15821220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:120949079..120978263hg38UCSC Ensembl
OuterchrX:120082933..120112117hg19UCSC Ensembl
OuterchrX:119910614..119939798hg18UCSC Ensembl
OuterchrX:119808468..119837652hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3829185
hg1929185
hg1829185
hg1729185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510856
Supporting Variants
SamplesNA18994
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)nssv622647
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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