A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554758



Internal ID327935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56313909..56313960hg38UCSC Ensembl
chr8:57226468..57226519hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381318
hg191318
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012652
Samples
Known GenesSDR16C5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554758
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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