A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4750193



Internal ID20526229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:107910783..107910783hg38UCSC Ensembl
chrX:107154013..107154013hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16287632
Samples
Known GenesMID2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4750193
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer