A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449024



Internal ID227273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228447618..230410000hg38UCSC Ensembl
chr2:229312334..231274715hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg381962383
hg191962382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928476
Samples
Known GenesDNER, FBXO36, PID1, SLC16A14, SP110, SP140, SP140L, TRIP12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449024
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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