A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17838920



Internal ID22022563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160743164..160743164hg38UCSC Ensembl
chr1:160712954..160712954hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6245319
Supporting Variants
Samples
Known GenesSLAMF7
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17838920
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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