A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5955976



Internal ID22731169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:21437701..21437701hg38UCSC Ensembl
chr3:21479193..21479193hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17428452
Samples
Known GenesZNF385D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5955976
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