A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497349



Internal ID274388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:43946087..43954299hg38UCSC Ensembl
chr15:44238285..44246497hg19UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg388213
hg198213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17702972
Samples
Known GenesFRMD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497349
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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