A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946212



Internal ID22721699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18153167..18153459hg38UCSC Ensembl
chr17:18056481..18056773hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386683
Samples
Known GenesMYO15A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946212
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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