A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17377965



Internal ID22435835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51344013..51344013hg38UCSC Ensembl
chr14:51810731..51810731hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5968657
Supporting Variants
Samples
Known GenesLINC00640
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17377965
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