A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944786



Internal ID22720256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:65060406..65060511hg38UCSC Ensembl
chr14:65527124..65527229hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377645
Samples
Known GenesCHURC1-FNTB, FNTB, MAX
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944786
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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