A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5914456



Internal ID22689673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128499704..128999795hg38UCSC Ensembl
chr7:128139758..128639849hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38500092
hg19500092
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17432585
Samples
Known GenesATP6V1F, CALU, CCDC136, FAM71F1, FAM71F2, FLNC, IRF5, KCP, LINC01000, LOC100130705, METTL2B, OPN1SW, TNPO3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5914456
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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