A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513764



Internal ID15853185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:114967659..115163287hg38UCSC Ensembl
OuterchrX:114202222..114397850hg19UCSC Ensembl
OuterchrX:114108478..114304106hg18UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38195629
hg19195629
hg18195629
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv627016
Samples1
Known GenesIL13RA2, LRCH2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513764
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer