A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506258



Internal ID283010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:41920634..41930628hg38UCSC Ensembl
chr15:42212832..42222826hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg389995
hg199995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17701168
Samples
Known GenesEHD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506258
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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