A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513613



Internal ID15853035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:84080155..84080405hg38UCSC Ensembl
OuterchrX:83335163..83335413hg19UCSC Ensembl
OuterchrX:83221819..83222069hg18UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg381288
hg191288
hg181288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626865
Samples1
Known GenesRPS6KA6
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513613
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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