A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513626



Internal ID15853048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:147992380..147993464hg38UCSC Ensembl
OuterchrX:147073900..147074984hg19UCSC Ensembl
OuterchrX:146881592..146882676hg18UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38831
hg19831
hg18831
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626878
Samples1
Known GenesFMR1NB
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513626
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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