A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446817



Internal ID225135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24331987..24335979hg38UCSC Ensembl
chr2:24554856..24558848hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383993
hg193993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910300
Samples
Known GenesITSN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446817
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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