A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5905847



Internal ID22681040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76546812..76552647hg38UCSC Ensembl
chr5:75842637..75848472hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg385836
hg195836
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17413486
Samples
Known GenesIQGAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5905847
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer