A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961684



Internal ID22736627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44376274..44376274hg38UCSC Ensembl
chr6:44344011..44344011hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17443648
Samples
Known GenesSPATS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961684
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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