A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5966696



Internal ID22741631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30786497..30786497hg38UCSC Ensembl
chr8:30644013..30644013hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17449205
Samples
Known GenesPPP2CB
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5966696
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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