A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5965162



Internal ID22740097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76578872..76578872hg38UCSC Ensembl
chr5:75874697..75874697hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17427622
Samples
Known GenesIQGAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5965162
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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