A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752605



Internal ID20528465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2304253..2304253hg38UCSC Ensembl
chr17:2207547..2207547hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16287112
Samples
Known GenesSRR
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752605
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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