A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510822



Internal ID15826847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:28309648..28352052hg38UCSC Ensembl
OuterchrX:28327765..28370169hg19UCSC Ensembl
OuterchrX:28237686..28280090hg18UCSC Ensembl
OuterchrX:28087422..28129826hg17UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg3842405
hg1942405
hg1842405
hg1742405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618865
SamplesNA10860
Known Genes
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)nsv510822
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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