A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947889



Internal ID22723381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:138313722..138313722hg38UCSC Ensembl
chr8:139325965..139325965hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17438168
Samples
Known GenesFAM135B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947889
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