A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416423



Internal ID195649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:67390542..67474542hg38UCSC Ensembl
chrX:66610384..66694384hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg3884001
hg1984001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740485
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416423
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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