A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17741027



Internal ID164693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:81207568..81208521hg38UCSC Ensembl
chrX:80463067..80464020hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38954
hg19954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5417362
Supporting Variants
Samples
Known GenesSH3BGRL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17741027
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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