A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532112



Internal ID308042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:21354599..21359207hg38UCSC Ensembl
chr21:22726919..22731527hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg384609
hg194609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734300
Samples
Known GenesNCAM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532112
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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