A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5980251



Internal ID22755186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:34866502..34866502hg38UCSC Ensembl
chr14:35335708..35335708hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384785
Samples
Known GenesBAZ1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5980251
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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