A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513722



Internal ID15853143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:46951557..46971306hg38UCSC Ensembl
OuterchrX:46810554..46830557hg19UCSC Ensembl
OuterchrX:46695498..46715501hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3819750
hg1920004
hg1820004
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv62n50
Supporting Variantsnssv626974
Samples1
Known GenesJADE3
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513722
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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