A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542305



Internal ID316738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66213305..66213339hg38UCSC Ensembl
chr7:65678292..65678326hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16997635
Samples
Known GenesTPST1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542305
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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