A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17458730



Internal ID22516613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:85106847..85107333hg38UCSC Ensembl
chrX:84361853..84362339hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38487
hg19487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5887351
Supporting Variants
Samples
Known GenesSATL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17458730
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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