A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512690



Internal ID15852115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:95795592..95797379hg38UCSC Ensembl
OuterchrX:95050591..95052378hg19UCSC Ensembl
OuterchrX:94937247..94939034hg18UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg381788
hg191788
hg181788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625312
Samples1
Known GenesMIR548AE1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512690
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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