A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423223



Internal ID202245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89283835..89856917hg38UCSC Ensembl
chr1:89749518..90322476hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38573083
hg19572959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905601
Samples
Known GenesFLJ27354, GBP1P1, GBP6, LOC729930, LRRC8B, LRRC8C, LRRC8D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423223
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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