A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6259434



Internal ID22064044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:40706510..40706510hg38UCSC Ensembl
chrX:40565762..40565762hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849191
Samples
Known GenesMED14
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6259434
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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