A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6514561



Internal ID20887916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:92997941..92999578hg38UCSC Ensembl
chr14:93464286..93465923hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg381638
hg191638
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18022869
Samples
Known GenesITPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6514561
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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