A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974143



Internal ID22749078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17258591..17258591hg38UCSC Ensembl
chr17:17161905..17161905hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388221
Samples
Known GenesCOPS3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974143
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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