A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv930500



Internal ID17307828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:122016918..122016943hg38UCSC Ensembl
OuterchrX:121150771..121150796hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38533
hg19533
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1607695
Samples
Known Genes
MethodSequencing
Analysis
PlatformNot reported
CommentsretroCNV insertion of a retrotransposition of TMEM126B mRNA.
ReferenceSchrider_et_al_2013
Pubmed ID23359205
Accession Number(s)nsv930500
Frequency
Sample Size946
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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