A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510817



Internal ID15826842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:18008649..18100374hg38UCSC Ensembl
OuterchrX:18026769..18118494hg19UCSC Ensembl
OuterchrX:17936690..18028415hg18UCSC Ensembl
OuterchrX:17786426..17878151hg17UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg3891726
hg1991726
hg1891726
hg1791726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622620
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)nsv510817
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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