A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6030264



Internal ID21939607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54880393..54884227hg38UCSC Ensembl
chr14:55347111..55350945hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg383835
hg193835
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17601582
Samples
Known GenesGCH1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6030264
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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