A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970756



Internal ID22745691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27979661..27979661hg38UCSC Ensembl
chr16:27990982..27990982hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388836
Samples
Known GenesGSG1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970756
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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