A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620041



Internal ID15819398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:120958822..120983123hg38UCSC Ensembl
OuterchrX:120092676..120116977hg19UCSC Ensembl
OuterchrX:119920357..119944658hg18UCSC Ensembl
OuterchrX:119818211..119842512hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3824302
hg1924302
hg1824302
hg1724302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv510856
Supporting Variants
SamplesNA15510
Known GenesCT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, 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)nssv620041
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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