A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1607695



Internal ID17307788
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 Flag1
Merged StatusS
Merged Variantsnsv930500
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformNot reported
CommentsretroCNV insertion of a retrotransposition of TMEM126B mRNA.
ReferenceSchrider_et_al_2013
Pubmed ID23359205
Accession Number(s)nssv1607695
Frequency
Sample Size946
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer