A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447309



Internal ID225615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177469686..177473894hg38UCSC Ensembl
chr2:178334414..178338622hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg384209
hg194209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921154
Samples
Known GenesAGPS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447309
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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