A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417604



Internal ID196795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:69789163..69791729hg38UCSC Ensembl
chrX:69009007..69011573hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg382567
hg192567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740580
Samples
Known GenesEDA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417604
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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