A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145121



Internal ID344326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104949274..104952151hg38UCSC Ensembl
chr14:105415611..105418488hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg382878
hg192878
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17700555
Samples
Known GenesAHNAK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145121
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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