A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6259572



Internal ID22064182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:85312512..85312512hg38UCSC Ensembl
chrX:84567518..84567518hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17851515
Samples
Known GenesPOF1B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6259572
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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