A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6259430



Internal ID22064040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:40080080..40080080hg38UCSC Ensembl
chrX:39939333..39939333hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849187
Samples
Known GenesBCOR
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6259430
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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