A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449716



Internal ID227944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228180849..228184999hg38UCSC Ensembl
chr1:228368550..228372700hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg384151
hg194151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897500
Samples
Known GenesIBA57
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449716
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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