A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550243



Internal ID323821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:118142050..118142056hg38UCSC Ensembl
chr1:118684673..118684679hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889370
Samples
Known GenesSPAG17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550243
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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