A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443796



Internal ID222186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232408189..232408305hg38UCSC Ensembl
chr1:232543935..232544051hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898580
Samples
Known GenesSIPA1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443796
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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