A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250678



Internal ID22055288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19795373..19795373hg38UCSC Ensembl
chr17:19698686..19698686hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17848155
Samples
Known GenesULK2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250678
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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