A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419601



Internal ID198731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:107738368..107738711hg38UCSC Ensembl
chrX:106981598..106981941hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17741876
Samples
Known GenesTSC22D3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419601
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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