A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17385256



Internal ID22443126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68136314..68137013hg38UCSC Ensembl
chr14:68603031..68603730hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5947399
Supporting Variants
Samples
Known GenesRAD51B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17385256
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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