A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5969016



Internal ID22743951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35166086..35166086hg38UCSC Ensembl
chr17:33493105..33493105hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17370709
Samples
Known GenesUNC45B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5969016
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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