A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5963110



Internal ID22738045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55390049..55390049hg38UCSC Ensembl
chr2:55617185..55617185hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402060
Samples
Known GenesCCDC88A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5963110
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer