A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446433



Internal ID224756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212435161..212435224hg38UCSC Ensembl
chr1:212608503..212608566hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896104
Samples
Known GenesNENF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446433
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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