A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2820136



Internal ID21265474
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 StatusM
Merged Variants
Supporting Variantsnssv13703267
Samples
Known GenesFMR1NB
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2820136
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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