A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17851488



Internal ID22035131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:19653794..19653794hg38UCSC Ensembl
chrX:19671912..19671912hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6252344
Supporting Variants
Samples
Known GenesSH3KBP1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17851488
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer