A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507109



Internal ID283838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:90921796..90925042hg38UCSC Ensembl
chr12:91315573..91318819hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg383247
hg193247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689979
Samples
Known GenesLINC00615
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507109
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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