A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13703267



Internal ID21225080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:147992425..147992425hg38UCSC Ensembl
chrX:147073945..147073945hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38503
hg19503
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2820136
Supporting Variants
Samples
Known GenesFMR1NB
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13703267
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1


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