A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17741717



Internal ID165383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:101237589..101237640hg38UCSC Ensembl
chrX:100492578..100492629hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558182
Supporting Variants
Samples
Known GenesDRP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17741717
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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