A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17849192



Internal ID22032835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:40708268..40708268hg38UCSC Ensembl
chrX:40567520..40567520hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6259435
Supporting Variants
Samples
Known GenesMED14
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17849192
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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