A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6259418



Internal ID22064028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:36120486..36120486hg38UCSC Ensembl
chrX:36138603..36138603hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849175
Samples
Known GenesCHDC2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6259418
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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