A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6259578



Internal ID22064188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:86162347..86162347hg38UCSC Ensembl
chrX:85417351..85417351hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17851521
Samples
Known GenesDACH2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6259578
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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