A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971387



Internal ID22746322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90628194..90628194hg38UCSC Ensembl
chr14:91094538..91094538hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17385888
Samples
Known GenesTTC7B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971387
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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