A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4737554



Internal ID20513516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:84080373..84080373hg38UCSC Ensembl
chrX:83335381..83335381hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg381355
hg191355
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16284946
Samples
Known GenesRPS6KA6
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4737554
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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