A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4758671



Internal ID20534531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57450254..57450254hg38UCSC Ensembl
chr17:55527615..55527615hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16279527
Samples
Known GenesMSI2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4758671
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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