A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512689



Internal ID15852114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:93539387..93546744hg38UCSC Ensembl
OuterchrX:92794386..92801743hg19UCSC Ensembl
OuterchrX:92681042..92688399hg18UCSC Ensembl
CytobandXq21.32
Allele length
AssemblyAllele length
hg387358
hg197358
hg187358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625311
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512689
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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