A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17741818



Internal ID165484
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 StatusS
Merged Variantsnsv5562827
Supporting Variants
Samples
Known GenesMUM1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17741818
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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