A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17393309



Internal ID22451179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50240330..50240687hg38UCSC Ensembl
chr19:50743587..50743944hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38358
hg19358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5936081
Supporting Variants
Samples
Known GenesMYH14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17393309
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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