A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562827



Internal ID335768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:106174452..106174503hg38UCSC Ensembl
chrX:105418445..105418496hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741818
Samples
Known GenesMUM1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562827
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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