A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442520



Internal ID220944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:220349539..220361285hg38UCSC Ensembl
chr2:221214260..221226006hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3811747
hg1911747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925580
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442520
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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