A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4759041



Internal ID20534901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2035407..2035407hg38UCSC Ensembl
chr17:1938701..1938701hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16273984
Samples
Known GenesDPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4759041
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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