A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445246



Internal ID223602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213250901..213251478hg38UCSC Ensembl
chr2:214115625..214116202hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38578
hg19578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923769
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445246
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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