A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17850540



Internal ID22034183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51266114..51266114hg38UCSC Ensembl
chr19:51769368..51769368hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6251109
Supporting Variants
Samples
Known GenesSIGLECL1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17850540
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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