A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554116



Internal ID327311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:12286815..12286866hg38UCSC Ensembl
chrX:12304934..12304985hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739280
Samples
Known GenesFRMPD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554116
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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