A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967804



Internal ID22742740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45228283..45228283hg38UCSC Ensembl
chr13:45802418..45802418hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376532
Samples
Known GenesGTF2F2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967804
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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