A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6252344



Internal ID22056954
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 StatusM
Merged Variants
Supporting Variantsnssv17851488
Samples
Known GenesSH3KBP1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6252344
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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