A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5964697



Internal ID22739632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168256216..168256216hg38UCSC Ensembl
chr5:167683221..167683221hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17422001
Samples
Known GenesTENM2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5964697
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