A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451259



Internal ID229445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177349336..177351448hg38UCSC Ensembl
chr2:178214064..178216176hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg382113
hg192113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921142
Samples
Known GenesLOC100130691
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451259
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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