A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512700



Internal ID15852125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:136074236..136077046hg38UCSC Ensembl
OuterchrX:135156395..135159205hg19UCSC Ensembl
OuterchrX:134984061..134986871hg18UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg382811
hg192811
hg182811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625323
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)nsv512700
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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