A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5609047



Internal ID21557352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:152275199..152275199hg38UCSC Ensembl
chrX:151443671..151443671hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17166509
SamplesHG03125
Known GenesGABRA3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5609047
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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