A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976305



Internal ID22751240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20430791..20430791hg38UCSC Ensembl
chr14:20898950..20898950hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17381381
Samples
Known GenesKLHL33
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976305
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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