A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904101



Internal ID22679275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:150649787..150651633hg38UCSC Ensembl
chr6:150970923..150972769hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg381847
hg191847
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17422722
Samples
Known GenesPLEKHG1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904101
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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