A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931129



Internal ID22706408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:41920630..41930627hg38UCSC Ensembl
chr15:42212828..42222825hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg389998
hg199998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17374268
Samples
Known GenesEHD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5931129
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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