A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954826



Internal ID22730054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:118969993..118969993hg38UCSC Ensembl
chr6:119291158..119291158hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17424125
Samples
Known GenesFAM184A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954826
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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