A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6242957



Internal ID22047567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130257329..130257329hg38UCSC Ensembl
chrX:129391303..129391303hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17850121
Samples
Known GenesZNF280C
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6242957
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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