A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17741954



Internal ID165620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:110348163..110348214hg38UCSC Ensembl
chrX:109591391..109591442hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559714
Supporting Variants
Samples
Known GenesAMMECR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17741954
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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