A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510837



Internal ID15826862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:79035499..79101708hg38UCSC Ensembl
OuterchrX:78290996..78357205hg19UCSC Ensembl
OuterchrX:78177652..78243861hg18UCSC Ensembl
OuterchrX:78097141..78163350hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3866210
hg1966210
hg1866210
hg1766210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622636
SamplesNA18994
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)nsv510837
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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