A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512704



Internal ID15852129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:146861392..146862469hg38UCSC Ensembl
OuterchrX:145942910..145943987hg19UCSC Ensembl
OuterchrX:145750602..145751679hg18UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg381078
hg191078
hg181078
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625327
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)nsv512704
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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