A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432979



Internal ID211708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154881606..155049606hg38UCSC Ensembl
chrX:154109881..154277881hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38168001
hg19168001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17738158
Samples
Known GenesF8, F8A1, F8A2, F8A3, FUNDC2, H2AFB1, H2AFB2, H2AFB3, MIR1184-1, MIR1184-2, MIR1184-3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432979
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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