A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947746



Internal ID22723248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55938553..55938553hg38UCSC Ensembl
chr2:56165688..56165688hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395167
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947746
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