A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445120



Internal ID223478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246958199..247181277hg38UCSC Ensembl
chr1:247121501..247344579hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38223079
hg19223079
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897844
Samples
Known GenesC1orf229, ZNF124, ZNF669, ZNF670, ZNF670-ZNF695, ZNF695
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445120
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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