A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555207



Internal ID328371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63204104..63204155hg38UCSC Ensembl
chr17:61281465..61281516hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713980
Samples
Known GenesTANC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555207
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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