A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17379591



Internal ID22437461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:52433472..52438190hg38UCSC Ensembl
chr15:52725669..52730387hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg384719
hg194719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5931658
Supporting Variants
Samples
Known GenesMYO5A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17379591
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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