A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559559



Internal ID332590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:215946376..215946427hg38UCSC Ensembl
chr2:216811099..216811150hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924601
Samples
Known GenesMREG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559559
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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