A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5905615



Internal ID22680804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12831399..12837681hg38UCSC Ensembl
chr6:12831631..12837913hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg386283
hg196283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17410633
Samples
Known GenesPHACTR1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5905615
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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