A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424302



Internal ID203297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:155337000..155643606hg38UCSC Ensembl
chrX:154566309..154873267hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38306607
hg19306959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17738200
Samples
Known GenesF8A1, F8A2, F8A3, H2AFB1, H2AFB2, H2AFB3, MIR1184-1, MIR1184-2, MIR1184-3, TMLHE, TMLHE-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424302
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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