A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512705



Internal ID15505444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:155560384..155574125hg38UCSC Ensembl
OuterchrX:154790045..154803786hg19UCSC Ensembl
OuterchrX:154443239..154456980hg18UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3813742
hg1913742
hg1813742
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625328
Samples1
Known GenesTMLHE
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512705
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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