A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5956749



Internal ID22710442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:112369987..112369987hg38UCSC Ensembl
chr8:113382216..113382216hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17431963
Samples
Known GenesCSMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5956749
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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