A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17850121



Internal ID22033764
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 StatusS
Merged Variantsnsv6242957
Supporting Variants
Samples
Known GenesZNF280C
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17850121
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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