A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17741891



Internal ID165557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:108486906..108487021hg38UCSC Ensembl
chrX:107730136..107730251hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423461
Supporting Variants
Samples
Known GenesCOL4A5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17741891
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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